Academic literature on the topic 'Genotypes and Pakistani population'
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Journal articles on the topic "Genotypes and Pakistani population"
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Waheed, Yasir, Talha Bin-Rahat, Sher Zaman Safi, and Ishtiaq Qadri. "Epidemiological patterns and risk factors associated with hepatitis B virus in Pakistani population." Asian Biomedicine 4, no. 4 (2010): 547–54. http://dx.doi.org/10.2478/abm-2010-0069.
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Abstract Hepatitis B virus prevalence is increasing in Pakistani population. National level estimates regarding the prevalence are missing. People are unaware of the risk factors involved in HBV transmission. The objective of the study was to review the prevalence, genotypes, and risk factors associated with HBV transmission in Pakistani Population. Literature search was done by using keyword HBV prevalence, genotypes and risk factors from Pakistani population at Pubmed, PakMediNet and Google scholar. Six different studies showed that the percentage prevalence of HBV in general population was 4.61±0.73%, and 21 different studies showed the percentage prevalence of 2.33±0.46% in blood donors. High prevalence of 7.94±1.49% and 12.86±4.52% were observed in multi transfused and IDU populations. Six different studies showed that the major prevalent genotype was D. Awareness regarding various risk factors involved in-viral transmission was very low. Prevalence of HBV was very high in multitransfused populations due to non-implementations of international standards regarding blood transfusions. Barbers were unaware of the risk factors associated with their shops in viral transmission. Practices of unsterilized dental and surgical instruments and recycling of syringes were major factors in viral transmission. Massive awareness and vaccination programs are required to decrease the future burden of HBV from Pakistani population.
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Gogorcena, Y., and D. E. Parfitt. "RAPD MARKER DIVERSITY AMONG PAKISTANI APRICOTS." HortScience 27, no. 6 (1992): 573e—573. http://dx.doi.org/10.21273/hortsci.27.6.573e.
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A number of 10 base primers were screened to identify RAPD polymorphisms among a population of semi wild apricot genotypes that had been collected by Maxine Thompson in 1988. 30 families collected from trees at 6 locations were analyzed. DNA from leaf tissue of 180 plants, ca. 6 genotypes per family, were isolated and tested against 20 primers. Seven primers were identified that produced consistent results with relatively few (thus, scoreable) and consistent bands. DNA was isolated using the cTAB method and the effects of additional CsCl centrifugation isolation were tested. No differences were found. Reaction conditions were tested to ensure consistent results. Considerable RAPD polymorphism was observed in this population. Parsimony analysis is being conducted to assess the relative variation among and within populations and to determine whether collection location had a more significant effect on DNA variation than other factors such as outcrossing or level of heterogeneity within populations.
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Ahmad, Mushtaq, and Aftab Ali Shah. "Predictive role of single nucleotide polymorphism (rs11614913) in the development of breast cancer in Pakistani population." Personalized Medicine 17, no. 3 (2020): 213–27. http://dx.doi.org/10.2217/pme-2019-0086.
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Aim: miRNAs play an important role in breast cancer (BC). Variations in miRNAs influence their maturation, expression and consequently regulation of their target genes. Materials & methods: In this study, single nucleotide polymorphism rs11614913 was genotyped in BC patients (n = 300) and 230 controls by employing tetra primer amplification refractory mutation system PCR and Sanger sequencing (Macrogen Korea). Results: A significant difference was observed in the genotypes through co-dominant ( χ2.#x00A0;= 42.03; p < 0.0001), additive (odds ratio [OR] = 0.6441 [0.4887–0.8490, 95% confidence interval]; p < 0.0019), dominant (OR = 0.3996 [0.2809–0.5686], p < 0.0001) and recessive (OR = 0.2993 [0.1220–0.7347], p < 0.009) statistical models showed decreased risk association of C allele with BC. Conclusion: Females having CT genotype are at higher risk of BC as compared with those having CC genotype.
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Mehmood, Asim, Peter M. Dracatos, Linta Maqsood, et al. "Genetic Variability and Population Structure of Pakistani Potato Genotypes Using Retrotransposon-Based Markers." Agriculture 13, no. 1 (2023): 185. http://dx.doi.org/10.3390/agriculture13010185.
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Molecular germplasm characterization is essential for gathering information on favorable attributes and varietal improvement. The current study evaluated the genetic divergence and population structure of 80 potato genotypes collected from Punjab, Pakistan, using polymorphic retrotransposon-DNA-based markers (iPBS). A total of 11 iPBS primers generated 787 alleles with a mean value of 8.9 alleles per primer, of which ~95% were polymorphic across the 80 genotypes. Different variation attributes, such as mean expected heterozygosity (H = 0.21), mean unbiased expected heterozygosity (µHe = 0.22), and mean Shannon’s information index (I = 0.32), showed the existence of sufficient genetic diversity in the studied potato genotypes. Analysis of molecular variance (AMOVA) showed that genetic variation within the population was higher (84%) than between populations (16%). A neighbor-joining tree was constructed based on the distance matrices that arranged the 80 genotypes into five distinct groups, and the genotypes FD61-3 and potato 2 had the highest genetic distance. A STRUCTURE analysis corroborated the dendrogram results and distributed the 80 genotypes also into five clusters. Our results determined that retrotransposon-based markers are highly polymorphic and could be used to evaluate genetic diversity between local and exotic potato genotypes. The genotypic data and population structure dissection analysis reported in this study will enhance potato varietal improvement and development.
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Salahud Din, Sadia. "Frequency of Epstein–Barr Virus Genotypes in Pakistani Trangender SexWorkers." Open Forum Infectious Diseases 4, suppl_1 (2017): S313. http://dx.doi.org/10.1093/ofid/ofx163.732.
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Abstract Background Transgender community large association with sex work has put them at a greater risk of contracting sexually transmitted infections (STIs).The aim of this study was to investigate the prevalence of Epstein–Barr Virus (EBV) genotypes in transgender sex workers (TSWs) of twin-cities of Pakistan. The high prevalence of EBV-2 genotype in sex workers has been previously reported. EBV genotypes were investigated in transgender sex workers to find out EBV-2 occurrence in Pakistani population. Methods A total of 86 transgender (Hijras) sex workers were randomly included in this study. Demographics, including age, the number of sex partners, sexual habits, and awareness about protective methods were obtained. Blood was collected from all subjects and The presence of Human Immunodeficiency Virus, Hepatitis B and C virus were determined by antibody strip testing. EBV detection and genotyping were performed by extracting genomic DNA from all whole blood samples. Β-globin and EBNA-1 were amplified to assess the quality and presence of EBV DNA. Analysis of EBNA-2 genotyping was done by nested PCR. Results HIV was the most prevalent infection in 40 transgender sex workers (46.51%) followed by HCV in 15 (17.44%). Among HIV-seropositive TSW’s, EBV genotype determination was only achievable in 60% of cases, where 62.5% were EBV-1, 29.16% of EBV-2 and co-infection was found in 8% samples. Among HIV-negative individuals, 78% were EBV-1, whereas EBV-2 genotype and co-infections were absent. All non-typable samples were amplifiable for the EBNA-1 gene in both populations, confirming EBV genome in the samples. Conclusion EBV-1 was the most common genotype of EBV in HIV seropositive and seronegative TSW’s but the high occurrence of EBV-2 and co-infection of both types was observed only in HIV seropositive individuals. This is the first report of frequency of EBV infections in the HIV-positive transgender community of Pakistan. Disclosures All authors: No reported disclosures.
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dos Santos, Carlucio Rocha, Caleb Guedes Miranda dos Santos, Dinair Couto-Lima, et al. "Evaluation of Yellow Fever Virus Infection in Aedes aegypti Mosquitoes from Pakistan with Distinct Knockdown Resistance Genotypes." Insects 16, no. 1 (2024): 33. https://doi.org/10.3390/insects16010033.
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Background: Yellow fever (YF) is an acute hemorrhagic disease endemic to Africa and Latin America; however, no cases have been reported in Asian regions with high Aedes aegypti infestation. Factors such as environmental conditions and genetic variations in the yellow fever virus (YFV) strains and mosquito populations may explain this absence. Mosquito populations have undergone strong selective pressure owing to the excessive use of insecticides. This pressure has led to the spread of alterations, such as knockdown-resistant mutations (kdr), which, while conferring resistance to pyrethroids, also induce various physiological side effects in the insect. Therefore, it is important to investigate whether the presence of kdr mutations influences the infectivity of YFV mosquitoes. This study evaluated the susceptibility of Ae. aegypti from Pakistan with distinct kdr genotypes to different YFV strains under laboratory conditions. Methods: Ae. aegypti from a Pakistani colony were exposed to YFV strains (PR4408/2008 and ES504/2017) along with the Rockefeller strain. After 14 days, RNA and DNA were extracted for viral RNA detection (qPCR) and kdr genotyping (TaqMan qPCR and HRM for T1520I and F1534C SNPs). Results: Pakistani Ae. aegypti were orally susceptible to YFV, with infection rates of 83.7% (PR4408/2008) and 61.3% (ES504), respectively, similar to Rockefeller. Two kdr genotypes (II + CC and TI + FC) were identified, with no significant differences in viral infection or dissemination rates. Conclusions: The Ae. aegypti population from Asia is capable of YFV infection and dissemination, regardless of kdr genotype.
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Faiz, Mariam, Amna Younus, and Abida Yasmeen. "Genetic Diversity and Distribution of Vitamin D Receptor (VDR) Genotypes in Breast Cancer Cases from Pakistan." Asian Pacific Journal of Cancer Biology 6, no. 4 (2021): 243–48. http://dx.doi.org/10.31557/apjcb.2021.6.4.243-248.
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Background: Breast carcinoma is one of the most commonly diagnosed invasive malignancies in females. In Pakistan, it is more commonly detected in women at a young age as compared to the West. Among all women, the risk of developing breast cancer is equal irrespective of their ethnic or racial basis. The aim of the study was to determine vitamin D receptor gene polymorphisms (FokI and TaqI) and allele frequency distribution in Pakistani women with newly diagnosed breast cancer. This study also aimed to find and compare genetic diversity of VDR polymorphisms among breast cancer cases in different population groups. Methods: Newly diagnosed women having breast cancer (n=300) were selected for the study. Blood samples of all the participants were analyzed for vitamin D levels and isolated DNA was subjected to PCR-RFLP analysis. Results: Results revealed that allelic frequency of FokI and TaqI was ‘F’; ‘f’ 50.67 and 49.33% and ‘T’ and ‘t’ was 46.67 and 53.33 respectively in Pakistani women with breast cancer. The genotypic frequency is significantly (P<0.05) distributed.Conclusion: The current study concluded significant difference in genotypes and allele frequency of VDR gene polymorphism in Pakistani population suffering from breast cancer when compared with other population.
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Cheema, Asma Naseer, Attya Bhatti, Xingbin Wang, et al. "APOEGene Polymorphism and Risk of Coronary Stenosis in Pakistani Population." BioMed Research International 2015 (2015): 1–5. http://dx.doi.org/10.1155/2015/587465.
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Genetic variation in lipid regulatory genes, particularlyAPOE, significantly influences the risk of coronary artery disease (CAD). This study aimed to assess the association betweenAPOEpolymorphism and angiographically assessed coronary stenosis in Pakistani population. A total of 695 subjects (22.3% female, mean age =54±11years) presenting with chest pain were enrolled after obtaining written informed consent. CAD stenosis/extent was assessed by angiography. Patients were classified as having severe stenosis (≥70%), moderate stenosis (30–69%), and mild stenosis (<30%). CAD patients with ≥70% stenosis (n=491) were further categorized based on possessing one, two, or three vessel diseases to assess the disease extent. Genomic DNA from leukocytes was isolated with DNA purification kit (Qiagen) andAPOEpolymorphisms (E2/E3/E4) were determined using TaqMan assays. Six hundred and seventy-two of 695 subjects were successfully genotyped. The frequency ofAPOE∗4carriers (3/4 and 4/4 genotypes) was significantly higher in severe stenosis group (≥70%) as compared to mild group (<30%) (22.8% versus 13.01%;P=0.01). In multiple regression, the odds ratio forAPOE∗4carriers to develop ≥70% stenosis was 2.16 (95% CI: 1.29–3.79;P<0.005). In conclusion, the presence ofAPOE∗4allele is a significant risk factor to develop severe coronary stenosis (>70%) among Pakistanis.
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Rizvi, Zainab, Nakhshab Choudhry, Aamir Jamal Gondal, and Nighat Yasmin. "Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population." Genes 14, no. 5 (2023): 1119. http://dx.doi.org/10.3390/genes14051119.
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Recurrent aphthous stomatitis (RAS) is a benign ulcerative condition, defined by the recurrent formation of non-contagious mucosal ulcers. Surfactant protein D (SP-D) is secreted frequently at surfaces exposed directly to body fluids. This study aims to investigate the association of SP-D single nucleotide polymorphisms (SNPs) with the onset of RAS. Blood samples from 212 subjects (106 cases/controls each) were collected during 2019 and genotyped for SP-D SNPs (rs721917, rs2243639, rs3088308) by polymerase chain reaction and restriction fragment length polymorphism followed by 12% polyacrylamide gel electrophoresis. Minor aphthous (75.5%) was the commonly observed ulcer type as compared to herpetiform (21.7%) and major aphthous ulcers (2.8%). A family history of RAS was reported in 70% of cases. RAS was found significantly associated with rs3088308 genotypes T/A (95% (Cl): 1.57–5.03, p = 0.0005), A/A (95% (Cl): 1.8–6.7, p = 0.0002), T-allele (95% (Cl): 1.09–2.36, p = 0.01), A-allele (95% (Cl): 1.42–3.91, p = 0.01), rs721917 genotype T/T (95% (Cl): 1.15–25.35, p = 0.03), and T-allele (95% (Cl): 1.28–3.10, p = 0.002). Female gender and obese body mass index (BMI) were significantly associated with rs3088308 genotypes T/A (95% (CI): 1.89–15.7, p = 0.001), T/T (95% (Cl): 1.52–11.9, p = 0.005), A-allele (95% (Cl): 1.65–7.58, p < 0.001), and T-allele (95% (Cl): 1.4–10.1, p <0.001) and rs721917 genotype T/T (95% (CI) = 1.3–33, p = 0.02), respectively. This study describes the association of SP-D SNPs (rs721917, rs3088308) with RAS in the Pakistani population.
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Nawaz, Syed Kashif, Asima Rani, Memoona Yousaf, Aasma Noreen, and Muhammad Arshad. "Genetic etiology of coronary artery disease considering NOS 3 gene variant rs1799983." Vascular 23, no. 3 (2014): 270–76. http://dx.doi.org/10.1177/1708538114544783.
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Reduced production of nitric oxide due to rs1799983 single nucleotide polymorphism in nitric oxide synthase 3 gene (NOS3) may enhance the risk of coronary artery disease. The association of rs1799983 polymorphism with coronary artery disease was investigated in the local population of Pakistan. Study consisted of 376 individuals, out of which 198 were coronary artery disease patients and 178 were normal healthy individuals. Allele-specific polymerase chain reaction (PCR) based strategy was used for the detection of different genotypes of rs1799983 polymorphism. PCR amplification results were obtained for 354 samples. Frequency of T allele was higher as compared to G allele in our population. Strong association between rs1799983 and coronary artery disease was observed (p < 0.01). TT genotype was found to enhance 5.717 times the risk of coronary artery disease (odds ratio (OR): 5.717; 95% confidence interval (95% CI) 3.586–9.115). On the basis of present results, it can be concluded that rs1799983 is strongly associated with coronary artery disease in our population and TT genotype of this polymorphism enhanced the risk of coronary artery disease in Pakistani population.
Dissertations / Theses on the topic "Genotypes and Pakistani population"
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Moreira, Bruno D. "The use of multilocus genotypes to infer population structures." Thesis, University of Reading, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.553658.
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Being able to determine the kinship structure and the relatedness of individuals are important prerequisite to test many models of evolution, Cepaea nemoralis is an ideal model organism for studying these processes because it has a rich history of research, and with its relatively low dispersal ability lends itself to a high degree of local adaptation over small and relatively easily studied areas. During this project we developed molecular markers to in an attempt to genotype of a population of C. nemoralis in Berrow Somerset. There are several methods available to exploit the discriminative power of DNA markers. These methods can be grouped into two main categories: moment estimators and likelihood estimators (Blouin, 2003; Thomas, 2005; Van-de-Casteele et a/., 2001). The aim of this project is to extend earlier methods of estimating relatedness and to model the probable recent pedigrees of a group of individuals purely from genetic information. This approach aims to model the multi locus genealogy back to a certain point in the past, prior to the point where the ancestral genotypes are drawn from an appropriate frequency distribution, in a similar way to (Gasbarra et al., 2006), taking into account genotypic errors. We developed a Moran model of evolution allowing for overlap of generations and different levels of mating fitness in a Bayesian framework with the use of importance sampling based on an algorithm developed by Beaumont (2003), called group importance metropolis-Hastings algorithm.
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Nishtar, Sania. "Study of the risk factors for coronary artery disease in a Pakistani population." Thesis, King's College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.401702.
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Howie, Bryan. "Statistical methods for phasing haplotypes and inputing genotypes in large population genetic datasets." Thesis, University of Oxford, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.531825.
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Elom, Hilary, and Shimin Zheng. "The distribution of hepatitis c virus genotypes in US population. Data from NHANES 2006-2016." Digital Commons @ East Tennessee State University, 2018. https://dc.etsu.edu/asrf/2018/schedule/116.
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Background: Unlike other non-hepatitis c viral infection, hepatitis c viral infection is a non-vaccine preventable disease. Thus, effective treatment is an important part in the prevention of complication of chronic hepatitis c infection. The viral genotype plays a significant role in the choice of treatment regimen.
Aim: the purpose of this study is to estimate the prevalence of hepatitis c viral infection and the distribution of viral genotype in the US population.
Methods: Diagnosis of Hepatitis C viral infection was made by assaying the blood specimen collected from the study participants using Ampiclor monitor (Roche Diagnostic System, Inc Branchburg NJ), and genotype determined from the NS5b region. The data is from NHANSE 2006-2016. SAS v 9.4 software was used to perform the analysis.
Results: Of the 356 participants (2006-2016) who tested positive to Hepatitis C virus-RNA, 205 persons had genotype 1a, 1b (n=66), other forms of genotype 1 (n=1), genotype 2(n=41), genotype 3 (n=30), genotype 4 (n=1), genotype 6(n=1), undetermined genotype (n=8). Based on weighted analysis of person infected with genotype 1, 2, 3; genotype 1 was highest across all ages and gender (78.2%). Of 271 participants infected with genotype 1, there were 5.09% Mexican Americans, 3.94% other Hispanics, 56.58% non-Hispanic whites, 28.74% non-Hispanic black, and 5.65% other races including multiracial population.
Subjects aged 50 years or above was 27.7% less likely being infected with HCV genotype 1 vs 2 and 3, compared with younger individuals (adjusted Odds Ratio (95% confidence interval) (aOR): 0.72 (0.72-0.73)). Non-Hispanic black were about 13 times (aOR: 13.1 (13.0-13.2)) as likely to be infected with genotype 1 vs 2 and 3 as non-Hispanic white.
Conclusion: Hepatitis C virus genotype 1 is predominant among those infected with hepatitis c virus in the US population. Improvement in therapy targeting genotype 1 is essential to reduce the burden and complication of chronic hepatitis C in the United States.
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Ponce-Benavente, Luis, Patricia Rejas-Pinelo, Miguel Angel Aguilar-luis, et al. "Frequency and coinfection between genotypes of human papillomavirus in a population of asymptomatic women in northern Peru." BioMed Central Ltd, 2018. http://hdl.handle.net/10757/624627.
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Objective: Describe the prevalence of HPV genotypes via PCR and DNA sequencing in 397 women who attended to the gynecological outpatient center in the Hospital Regional Docente de Cajamarca from March to September 2017. Results: A positive PCR result for HPV was observed in 121 cervical samples. A high-risk genotype was found in 63.6% (77/121) of patients, a probably oncogenic type in 23.1% (28/121) and a low-risk type in 7.4%. Among the high-risk genotypes, HPV-31 was the most common one present in 20% (21/77), followed by HPV-16 in 11.4% (12/77). Coinfections between two or more genotypes were observed in 12 cases.<br>This work was supported by 4th research incentive of the Universidad Peruana de Ciencias Aplicadas (Grant: UPC‑EXP‑02‑2017). Lima, Peru.<br>Revisión por pares
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Heyman, Fredrik. "Root rot of pea caused by Aphanomyces euteiches : calcium-dependent soil suppressiveness, molecular detection and population structure /." Uppsala : Dept. of Forest Mycology and Pathology, Swedish University of Agricultural Sciences, 2008. http://epsilon.slu.se/200824.pdf.
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Pitt, Alison Patricia. "Comparison of Middle Eastern Bedouin genotypes with previously studies populations using polymorphic Alu insertions." University of Western Australia. Centre for Forensic Science, 2009. http://theses.library.uwa.edu.au/adt-WU2009.0119.
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[Truncated abstract] Polymorphic Alu insertions (POALINs) are known to contribute to the variation and genetic diversity of the human genome. In this report specific POALINs of the Major Histocompatibility Complex (MHC) were studied. Previous population studies on the MHC POALINs have focused on individuals of African, European and Asian descent. In this study, we expand the research by studying a new and previously uncharacterised population, focusing on the Bedouin from the Middle East. Specifically we report on the individual insertion frequencies of four POALINs within the MHC class I region of this population. POALINs are members of a young Alu subfamily that have only recently been inserted into the human genome. POALINs are either present or absent at particular sites. Individuals that share the inserted (or deleted) polymorphism inherited the insertion (or deletion) from a common ancestor, making Alu alleles identical by decent. In population genetics a comparison of the resulting products from each population can then be done by comparing the lengths of the PCR products in a series of unrelated individuals and may also detect polymorphisms with regard to the presence or absence of the Alu repeats. As a direct result of their abundance and sequence identity, they promote genetic recombination events that are responsible for large-scale deletions, duplication and translocations. The deletions occur mostly in the A-T rich regions and have found to be unlikely to have been created independently of the insertions of the Alu elements (Callinan et al, 2005) The easy genotyping of the POALINs has proven to be very valuable as lineage markers for the study of human population genetics, pedigree and forensics as well as genomic diversity and evolution. POALINs have been used in a range of applications, primarily focusing on anthropological analysis of human populations. As a result of its ease of use and its utility as a marker in human evolutions studies, combining the POALINs along with other markers used in forensics could lead to improved identity testing in forensic science. More specifically, in combination with more traditional markers, race specific genotypes and haplotypes could be used for profiling crime scene samples. ... This is supported by previously reported molecular data using various types of genetic markers. In a study using six separate Alu genes, Antunez-de-Mayolo et al were able to generate a phylogenetic tree, in which the biogeographical groups followed a pattern. The biogeographical groups started with African populations that were found to relate closely to the hypothetical ancestral African population. The African populations were then followed in order by Southwest Asian populations, European populations which include Middle Eastern groups (Antunez-de-Mayolo et al, 2002). This study shows the similarities and differences between the frequencies of the Middle Eastern Bedouin and the rest of the compared populations. Though no clear results were determined, the information from the POALINs along with information provided from other genetic markers can lead to further research on the Bedouin population and the improvement of the forensic population database in order to accurately test individual ethnic background of samples to be analysed.
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Kotzé, Hester Johanna. "Evaluation of specific genotypes in the context of the type 2 diabetes risk phenotype in the black South African population / by H.J. Kotzé." Thesis, North-West University, 2010. http://hdl.handle.net/10394/4399.
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Type 2 diabetes (T2D) is a complex disease that affects 4% of the general population and
is expected to increase to 5.4% by the year 2025. A clear understanding of the aetiology
of T2D susceptibility and pathogenesis will thus have a noticeable impact on global health.
The black South African population is currently under increased risk for developing T2D
due to the impact of urbanisation. Since the mechanisms of disease risk in this population
differ to that of the so-called developed countries, it is necessary that the exact
pathogenesis of this disease be elucidated in order to define suitable screening and
therapeutic strategies for the black South African population. The purpose of this study
was to initiate this process. Four genotypes were investigated, including alterations in the
IRS-1, IRS-2, PPAR?2 and calpain 10 genes. This study was therefore the first to
evaluate these specific genotypes in the context of the T2D risk phenotype in the black
South African population, aiming towards a novel and population specific contribution
towards current T2D research.
The results of this study indicated that none of the screened genotypes were significant
predictors of impaired glucose in the black South African population. A biphasic glucose
curve shape (GCS) was associated with female gender, whereas a monophasic GCS, a
high BMI, female gender as well as a high HbA1c level were linked to glucose intolerance.
A high HbA1c level proved to be a significant predictor for glucose intolerance, although
the four screened loci were not good predictors of the HbA1c level. The study also
illustrated that it is not possible to simply adopt T2D screening strategies from those
developed in other ethnic groups and that different genetic and environmental risk factors
that play a role in the pathophysiology of T2D should be taken into account. The need for
optimised and population specific T2D screening strategies is therefore emphasised.
By further elucidating the complexities of T2D, a step towards providing more accurate
screening strategies to the immediate population will be achieved. This will directly result
in a significant decrease in the national burden of care, morbidity and mortality, paving the
way to optimal health care strategies for this developing country.<br>Thesis (Ph.D. (Biochemistry))--North-West University, Potchefstroom Campus, 2010.
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Proell, Julie. "Population sex ratio and size affect pollination, reproductive success, and seed germination in gynodioecious lobelia siphilitica evidence using experimental populations and microsatellite genotypes /." [Kent, Ohio] : Kent State University, 2009. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=kent1247239090.
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Thesis (M.S.)--Kent State University, 2009-07-15.<br>Title from PDF t.p. (viewed Mar. 8, 2010). Advisor: Andrea Case. Keywords: Attachment; peer relationships; middle childhood; emotion regulation. Includes bibliographical references (p. 77-96).
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Proell, Julie Marie. "Population sex ratio and size affect pollination, reproductive success, and seed germination in gynodioecious Lobelia siphilitica: evidence using experimental populations and microsatellite genotypes." Kent State University / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=kent1247239090.
Full textBooks on the topic "Genotypes and Pakistani population"
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Hussain, Tajammal. Normal and therapeutic diet manual for Pakistani population. Faculty of Nutrition Sciences, NWFP Agricultural University, 1993.
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Chen, Hillary Joy. Pharmacogenetics of acetyltransferase and cytochrome P4501A2 phenotypes and genotypes in an inuit population. National Library of Canada, 1996.
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Hameed, Aqueela. Knowledge, attitude and sexual behaviour in relation to HIV/AIDS among college students in Middlesbrough: A comparison between the Pakistani and White population. Tees Health Authority, 1995.
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Frankham, Richard, Jonathan D. Ballou, Katherine Ralls, et al. Determining the number and location of genetically differentiated population fragments. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780198783398.003.0010.
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The number and geographic location of genetically differentiated populations must be identified to determine if fragmented populations require genetic management. Clustering of related genotypes to geographic locations (landscape genetic analyses) is used to determine the number of populations and their boundaries, with the simplest analyses relying on random mating within, but not across populations. Evidence of genetic differentiation among populations indicates either that they have drifted apart (and are likely inbred) and/or that the populations are adaptively differentiated. The current response when populations are genetically differentiated is usually to recommend separate management, but this is often ill-advised. A paradigm shift is needed where evidence of genetic differentiation among populations is followed by an assessment of whether populations are suffering genetic erosion, whether there are other populations to which they could be crossed, and whether the crosses would be beneficial, or harmful.
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Walsh, Bruce, and Michael Lynch. Short-term Changes in the Variance: 2. Changes in the Environmental Variance. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0017.
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While classical quantitative genetics usually assumes that all genotypes have the same environmental variance (the assumption of homoscedasticity), in reality, genotypes can show heteroscedasticity in the environmental variance. When such variation is heritable (i.e., has an additive variance in an outbred population), then the environmental variance can change under selection. This can either be due to an indirect response (such as during directional selection on a trait), or through direct selection to increase the homogeneity of a trait (such as for increased uniformity during harvesting). This chapter reviews the existing data on the heritability of the environmental variance and examines several different genetic models for predicting its response.
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Walsh, Bruce, and Michael Lynch. Short-term Changes in the Mean: 3. Permanent Versus Transient Response. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0015.
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In a variety of settings—additive epistasis in a diploid, dominance in an autotetraploids, shared environmental effects (such as epigenetic contributions), maternal effects, and dominance under inbreeding—the response in the mean has both a permanent and a transient component. The latter arises because selection perturbs the population distribution of genotypes away from their Hardy-Weinberg values. Upon the cessation of selection, any change in allele frequencies remains, but any additional changes due to departures from Hardy-Weinberg decay away. The result is that, even in the presence of these transient components, the breeder's equation often accurately predicts the amount of permanent response.
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Verkaaik, Oskar. ‘Our Rule’. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190656546.003.0007.
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This chapter by Oskar Verkaaik explores a neglected comparison between Urdu-speaking Mohajir support for the Muttahida Qaumi Movement (MQM), and Mohajir membership in the Dawat-i-Islami proselytizing movement in the nineties. Initially Verkaaik outlines some superficial differences that mark this comparison. Whereas the MQM comprises a political party and ethnic movement, the Dawat-i-Islami condemns politics and promotes Islam as an antidote to ethnic strife. Although the two movements are partial adversaries, both depart from a singular notion of Mohajir religiosity that is rooted in the modernist condemnation of popular religion, and exacerbated by ethnic stereotyping. Unfolding motifs of physical and spiritual migration and journeys (for example, from Mecca to Medina, India to Pakistan, Pakistan and abroad), Verkaaik argues that both movements distinctly appeal to young Karachiites’ aspirations and anxieties about the future—and tap into popular religious traditions that bind and separate Mohajirs from other segments of the Pakistani population.
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Lee, Jonathan H. X., Fumitaka Matsuoka, Edmond Yee, and Ronald Y. Nakasone, eds. Asian American Religious Cultures. ABC-CLIO, LLC, 2015. http://dx.doi.org/10.5040/9798400615184.
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A resource ideal for students as well as general readers, this two-volume encyclopedia examines the diversity of the Asian American and Pacific Islander spiritual experience. Despite constituting a fairly small proportion of the U.S. population—roughly 5 percent—Asian Americans are a widely diverse group with equally heterogeneous religious beliefs and traditions. This encyclopedia provides a single source for authoritative information on the Asian American and Pacific Islander religious experience, addressing South Asian Americans, such as Indian Americans and Pakistani Americans; East Asian Americans, including Chinese Americans, Japanese Americans, and Korean Americans; and Southeast Asian Americans, whose ethnicities include Filipino Americans, Thai Americans, and Vietnamese Americans. Pacific Islanders include Hawaiians, Samoans, Marshallese, Tongan, and Chamorro. The coverage includes not only traditional eastern belief systems and traditions such as Buddhism, Confucianism, and Hinduism as well as Micronesian and Polynesian religious traditions in the United States, but also the culture and religious rituals of Asian American Christians.
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Pozio, Edoardo. Trichinellosis. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198570028.003.0068.
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Trichinellosis is caused by nematodes of the genus Trichinella. These zoonotic parasites show a cosmopolitan distribution in all the continents, but Antarctica. They circulate in nature by synanthropic-domestic and sylvatic cycles. Today, eight species and four genotypes are recognized, all of which infect mammals, including humans, one species also infects birds, and two other species infect also reptiles.Parasites of the genus Trichinella are unusual among the other nematodes in that the worm undergoes a complete developmental cycle, from larva to adult to larva, in the body of a single host, which has a profound influence on the epidemiology of trichinellosis. When the cycle is complete, the muscles of the infected animal contain a reservoir of larvae, capable of long-term survival. Humans and other hosts become infected by ingesting muscle tissuescontaining viable larvae.The symptoms associated with trichinellosis vary with the severity of infection, i.e. the number of viable larvae ingested, and the time after infection. The capacity of the worm population to undergo massive multiplication in the body is a major determinant. Progression of disease follows the biological development of the parasite. Symptoms are associated first with the gastrointestinal tract, as the worms invade and establish in the small intestine, become more general as the body responds immunologically, and finally focus on the muscles as the larvae penetrate the muscle cells and develop there. Although Trichinella worms cause pathological changes directly by mechanical damage, most of the clinical features of trichinellosis are immunopathological in origin and can be related to the capacity of the parasite to induce allergic responses.The main source of human infection is raw or under-cooked meat products from pig, wild boar, bear, walrus, and horses, but meat products from other animals have been implicated. In humans, the diagnosis of infection is made by immunological tests or by direct examination of muscle biopsies using microscopy or by recovery of larvae after artificial digestion. Treatment requires both the use of anthelmintic drugs to kill the parasite itself and symptomatic treatment to minimize inflammatory responses.Both pre-slaughter prevention and post-slaughter control can be used to prevent Trichinella infections in animals. The first involves pig management control as well as continuous surveillance programmes. Meat inspection is a successful post-slaughter strategy. However, a continuous consumer education is of great importance in countries where meat inspection is not mandatory.
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Fuchs, Simon Wolfgang. In a Pure Muslim Land. University of North Carolina Press, 2019. http://dx.doi.org/10.5149/northcarolina/9781469649795.001.0001.
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Centering Pakistan in a story of transnational Islam stretching from South Asia to the Middle East, Simon Wolfgang Fuchs offers the first in-depth ethnographic history of the intellectual production of Shi‘is and their religious competitors in this “Land of the Pure.” The notion of Pakistan as the pinnacle of modern global Muslim aspiration forms a crucial component of this story. It has empowered Shi'is, who form about twenty percent of the country's population, to advance alternative conceptions of their religious hierarchy while claiming the support of towering grand ayatollahs in Iran and Iraq. Fuchs shows how popular Pakistani preachers and scholars have boldly tapped into the esoteric potential of Shi'ism, occupying a creative and at times disruptive role as brokers, translators, and self-confident pioneers of contemporary Islamic thought. They have indigenized the Iranian Revolution and formulated their own ideas for fulfilling the original promise of Pakistan. Challenging typical views of Pakistan as a mere Shi'i backwater, Fuchs argues that its complex religious landscape represents how a local, South Asian Islam may open up space for new intellectual contributions to global Islam. Yet religious ideology has also turned Pakistan into a deadly battlefield: sectarian groups since the 1980s have been bent on excluding Shi'is as harmful to their own vision of an exemplary Islamic state.
Book chapters on the topic "Genotypes and Pakistani population"
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Sirén, Jouni, Niko Välimäki, and Veli Mäkinen. "Indexing Finite Language Representation of Population Genotypes." In Lecture Notes in Computer Science. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-23038-7_23.
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Müller-Starck, G. "Reproductive Success of Genotypes of Pinus Sylvestris L. in Different Environments." In Population Genetics in Forestry. Springer Berlin Heidelberg, 1985. http://dx.doi.org/10.1007/978-3-642-48125-3_8.
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Sarwar, Muhammad Sajjad, and Ehtesham Khalid. "COVID-19 Trends and Experiences in Pakistani Population." In Handbook on COVID-19 Pandemic and Older Persons. Springer Nature Singapore, 2023. http://dx.doi.org/10.1007/978-981-99-1467-8_31.
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Akram, Shahzad K., and Christine Carlsson-Skwirut. "Correlating Maternal and Infant Anthropometric Variables and Micronutrients at Birth in the Pakistani Population." In Handbook of Anthropometry. Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4419-1788-1_64.
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Reynoso, María Marta, María Laura Ramírez, María Cecilia Farnochi, Adriana M. Torres, and Sofía Noemí Chulze. "Population Structure of Fusarium graminearum Species Complex Genotypes and Chemotypes in Relation to Trichothecenes Production." In Fusarium Head Blight in Latin America. Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-7091-1_1.
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Cerri, N., S. Pivetti, and F. De Ferrari. "Characterization of YNZ 22 Locus for Forensic Purposes. Allele and Genotypes Frequencies in a Northern Italian Population." In 16th Congress of the International Society for Forensic Haemogenetics (Internationale Gesellschaft für forensische Hämogenetik e.V.), Santiago de Compostela, 12–16 September 1995. Springer Berlin Heidelberg, 1996. http://dx.doi.org/10.1007/978-3-642-80029-0_151.
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Imtiaz, Muhammad. "Zinc Wheat Variety Release, Seed Production and Scaling Up Strategies in Pakistan." In Breeding Zinc Crops for Better Human Health. Springer Nature Switzerland, 2025. https://doi.org/10.1007/978-3-031-84342-6_5.
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Abstract Pakistan has the highest levels of malnutrition as nearly 40% of children and mothers are deficient in zinc, a key micronutrient for early childhood growth and development and pregnancy outcomes. High zinc wheat developed through biofortification is a food-based innovation proven to address malnutrition. Pakistan is one of the highest wheat-consuming countries in the world as each Pakistani consumes, on average 240 g of wheat daily, or 87 kg annually, and thus provides 72% of Pakistan’s daily caloric intake. This makes wheat the ideal food vehicle for an intervention to increase zinc intake in the population. However, zinc wheat will only have an impact once the seed systems ensure that the seed is made available at a scale for farmers to purchase, plant, and grow. This chapter focuses on the current varietal release system and proposes a modified varietal release and demand-based nutrition sensitive seed systems for zinc wheat that will make sure that varieties released within 5 years are promoted and old susceptible ones are eliminated. In addition to the varietal release and seed system, pre-release and early-generation seed production, marketing, demand generation/promotion, and scaling up strategies to increase the production and availability of high zinc grain for the commercial production of biofortified flour which will have a positive impact on the nutritional status of the population were also discussed.
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Honor, Richard, and Robert I. Colautti. "EICA 2.0: a general model of enemy release and defence in plant and animal invasions." In Plant invasions: the role of biotic interactions. CABI, 2020. http://dx.doi.org/10.1079/9781789242171.0192.
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Abstract Plants and animals have evolved a variety of strategies to limit the negative fitness consequences of natural enemies (i.e. herbivores, predators, parasites and pathogens). Demographic bottlenecks occurring during the invasion process reduce the number of co-introduced natural enemies, providing opportunities to study rapid evolution in environments with different or reduced enemy loads. Enemy release theory provides a set of hypotheses and predictions about the role of natural enemies in the proliferation of invasive species. This body of theory includes the Enemy Release Hypothesis (ERH) and the related Evolution of Increased Competitive Ability Hypothesis (EICA), but there is often confusion about these hypotheses and the data needed to test them. We introduce a simple, general model of enemy release to identify and clarify some of the key assumptions and predictions implicit in enemy release theory and its impacts on invasion. Although introduced populations likely benefit from a reduction in the direct fitness impacts of natural enemies in the early stages of invasion, an evolutionary shift in resource allocation from defence to growth and reproduction is much less likely and depends on a delicate balance between the fitness costs and benefits of defence and the fitness impacts of natural enemies in both the native and introduced ranges. Even when the abundance of natural enemies is lower in the introduced range, the majority of scenarios do not favour evolution of less defended genotypes that are more competitive or more fecund, contrary to predictions of EICA. Perhaps surprisingly, we find that the level of damage by natural enemies in field surveys is not generally a good parameter for testing enemy release theory. Instead, common garden experiments characterizing fitness reaction norms of multiple genotypes from the native and introduced range are crucial to estimate the historic rate of adaptive evolution or predict it into the future. Incorporating spatial autocorrelation and methods from population genetics can further improve our understanding of the role of enemy release and evolution in the proliferation of invasive species.
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Morales, Yonis, and Rolando Grajeda. "Virulence genes of new population of coffee rust (Hemileia vastatrix) affecting coffee variety 'Lempira', in Honduras; resistant and susceptible varieties." In Mutation breeding, genetic diversity and crop adaptation to climate change. CABI, 2021. http://dx.doi.org/10.1079/9781789249095.0035.
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Abstract The coffee variety 'Lempira', released in Honduras in 1998, was classified 100% resistant to races I and II of coffee rust identified by Portugal's Centre for Research into Coffee Rusts (Centro de Investigação das Ferrugens do Cafeeiro) (CIFC) in 1997. However, since 2007, the disease has been reported in seed foundation plots and producer farms, the most recent epidemic report being in April 2016 in Vegas de Jalan, Juticalpa Olancho, affecting 210 ha. Since this variety constitutes 45% of the cultivated area under coffee in the country, there is a need to identify the virulence genes of the new strain and to determine the resistance and susceptibility of other cultivated varieties. For these purposes, mass samples of rust were inoculated on leaf discs of the differential clones 1343/269, 110/5, 147/1, 152/3, 33/1, 419/20, 832/1 and 832/2, together with 87/1, 1006/10, 420/10 and 420/2 from the Federal University of Vicosa, as well as on the two main cultivated resistant varieties ('Parainema' and 'IHCAFE- 90'), and seven promising genotypes, under controlled temperature conditions and relative humidity. After 20-60 days of inoculation, seven virulence genes were identified (v1, v2, v4, v5, v6, v7, v9), of which v1, v4, v6, v7 and v9 had not been reported in Honduras previously. It is inferred that this rust population arose by recombination of race v5 with v6, v7 or v9. Races with 3, 4, 5, 6 or 7 virulence determinants were identified as the most complex and aggressive strains described but they lacked the v3 and v8 determinants. In addition, it was found that 'Parainema', 'H27', 'T5296-170', 'Central American', 'Pacamara yellow' and 'Anacafe-14' are resistant because they possess the SH8 gene, absent from 'Lempira'. 'IHCAFE-90' and 'Obatá' showed 20% susceptibility, and 'Ruiru 11' was susceptible. The results reveal the diversity of rust virulence genes in Honduras and emphasize the importance of the SH3 and SH8 genes as sources of resistance.
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Avci, Utku, and Hülya Sipahi. "Genome Editing of Gene Families for Crop Improvement." In A Roadmap for Plant Genome Editing. Springer Nature Switzerland, 2023. http://dx.doi.org/10.1007/978-3-031-46150-7_1.
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AbstractCrop improvement has been a long-standing focus of agricultural research, aiming to enhance nutritional richness, aroma, visual appeal, and yield to meet the growing global food demand. Recent advances in molecular biology and genetic engineering, particularly genome editing, offer precise and targeted tools for modifying crop genomes. Traditional plant breeding methods, while successful in the past, are time-consuming, and techniques like mutagenesis and transgenesis have limitations. Genome editing techniques provide unprecedented precision and enable scientists to make desired modifications to a plant’s DNA. This chapter explores the role of genome editing, specifically in gene families, for crop improvement, highlighting its potential benefits and challenges.Gene families are crucial for important crop traits like yield, disease resistance, and environmental adaptation. However, conventional breeding methods often struggle to effectively manipulate gene families due to their complex nature. Genome editing offers a promising solution by allowing targeted modifications to specific gene family members. The precision of genome editing tools can help unravel the functions of gene family members in diverse plant species.With the challenges posed by climate change, global conflicts, and population growth, the conventional food system falls short of meeting future demands sustainably. Genome-edited crops hold promise in obtaining elite genotypes with desirable traits, contributing to a resilient and sustainable agriculture and food system. Moreover, genome editing facilitates the study of genetic diversity that governs desirable crop characteristics, benefiting both genome-edited and conventionally bred crops.
Conference papers on the topic "Genotypes and Pakistani population"
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Ali, Muhammad Muddassir, Mahak Gull, Muhammad Ijaz, and Ahmed Riaz Khan. "IDDF2022-ABS-0198 Genotype identification of hepatitis E virus infection among pakistani population." In Abstracts of the International Digestive Disease Forum (IDDF), Hong Kong, 2–4 September 2022. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2022. http://dx.doi.org/10.1136/gutjnl-2022-iddf.120.
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Akhter, Zohaib, Asaad Ahmed Nafees, Unaib Rabbani, Shama Razzaq, and Muhammad Irfan. "Risk factors of respiratory symptoms in urban Pakistani population." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa4530.
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Jasnić, Ivana, Slađana Janković, Dragan Janković, Dragan Milatović, Dragan Grčak, and Milosav Grčak. "POMOLOGICAL PROPERTIES OF SELECTED WALNUT GENOTYPES FROM THE NATURAL POPULATION." In 1st International Symposium on Biotechnology. University of Kragujevac, Faculty of Agronomy, 2023. http://dx.doi.org/10.46793/sbt28.143j.
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The pomological characteristics of selected walnut genotypes from the natural population in the municipality of Leposavić were examined. The study included 33 walnut genotypes from the natural population in the valley of the river Ibar. Due to the permanent generative reproduction, the walnut population is very heterogeneous. The main goal of the research is to find and describe promising genotypes that can be used in breeding work or for establishing new plantations.Obtained results showed that inthe natural population of walnuts, the genotypes of poorer traits predominate, but several genotypes of exceptional characteristics weresingled out, which are interesting for further research.
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Munawar, Saba. "Abstract B91: Assosiation of tumor supressor gene p53 with lung cancer in Pakistani population." In Abstracts: AACR-NCI-EORTC International Conference: Molecular Targets and Cancer Therapeutics--Nov 12-16, 2011; San Francisco, CA. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1535-7163.targ-11-b91.
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Amigo, Jorge, Christopher Phillips, and Antonio Salas. "Viability of in-house datamarting approaches for population genetics analysis of snp genotypes." In Proceeding of the 2nd international workshop. ACM Press, 2008. http://dx.doi.org/10.1145/1458449.1458465.
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Gheorge, Codrin, Schröder Verginica, Stoicescu Ramona, Honce Adina, and Dumitru Irina. "HPV GENOTYPES COINFECTIONS AND HEALTH RISK - PRELIMINARY STUDY OF THE EAST ROMANIAN POPULATION." In GEOLINKS Conference Proceedings. Saima Consult Ltd, 2021. http://dx.doi.org/10.32008/geolinks2021/b1/v3/10.
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The study aims to identify the degree of infection and co-infection with HPV strains in people of different ages, to assess the risk associated with lack of immunization of the Romanian population. In this study we are looking at the prevalence and relationship of the different types of HPV strains present in the 37 cases with suspected HPV infection that were analyzed, in the period 2018-2019, within the Prodiagnostic analysis laboratory, in Constanța, Romania. Of the total number of people analyzed for the case study, 45.94% (17 out of 37) tested positive for HPV infection. The analysis of the frequency of strains by risk categories shows that the highest percentage was 48% in the case of high-risk strains, followed by the percentage of frequency of strains with unknown risk (44%) and that of low-risk strains (8 %); The analysis by age indicates the maximum infection rate recorded belonging to the age group between 23 and 34 years. The association between strains and the 50% frequency indicates an important aspect of the infection as well as important data for diagnosis and treatment and involves more rigorous monitoring of patients with such associations, the risk increases with the associations.
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Haq, Ameena, Kainat Zafar, Mashal Fatima, and Muhammad Shafique. "Effects of Different Nail Polish Colors on Arterial Blood Oxygen Saturation Values (SpO2) in Pakistani Population." In ICBSP 2018: 2018 3rd International Conference on Biomedical Imaging, Signal Processing. ACM, 2018. http://dx.doi.org/10.1145/3288200.3288202.
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Abd-Alhussein, Elaf, Eman Abdul Ameer, Aya Ali, Ali Al-Marzoqi, Ahmed Yas, and Ammar Shalan. "Unveiling the Genetic Symphony: Exploring IL- 6 and IL-10 Gene Variations as Pivotal Predictors of COVID-19 Severity in the Babylonian Population." In 5th International Conference on Biomedical and Health Sciences. Cihan University-Erbil, 2024. http://dx.doi.org/10.24086/biohs2024/paper.1460.
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The new coronavirus, which is now many respiratory illnesses in Wuhan, China, under the name SARS- CoV-2, from December 2019. The illness COVID-19 was brought on by this virus. A worldwide pandemic has been caused by the virus spreading from person to person. The investigation tries assess polymorphism effect with some genes like Interleukin-6 and Interleukin- 10 on susceptibility to covid-19 in Babylon province. A total of (113) cases in this study (63) cases have clinical symptoms of covid -19 patient, (50) blood samples were collected from healthy people as a control group in this study during (November 2021 to February 2022) at Al-Morgan Hospital. There were many demographic data included in the present study such as age distribution, sex distribution, and geographic distribution of covid patients. Among (63) samples from suspected covid -19 patients from different age groups (20 to 80 years old). The three genotypes (CC, CG &GG), respectively (5.31, 38.94, 11.50), and the allele frequency of (C, G) were (44.44, 55.56) for patients and genotypes (CC, CG &GG), respectively (15.04, 23.01, 6.19) and the allele frequency of (C, G) was (60.00, 40.00) for controls. three genotypes (GG, GA &AA), (3.54, 51.33, 0.88) respectively, and allele frequency of (G, A) was (52.38, 47.62) respectively for the patients and genotypes (GG, GA &AA), (7.96, 20.35, 15.93) respectively, and allele frequency (G, A) was (41.00, 59.00) respectively for control people.
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Zhang, Hongyan, and Hongli Zhang. "The simulation analysis on the population with a sole type of mating between different genotypes." In 2011 23rd Chinese Control and Decision Conference (CCDC). IEEE, 2011. http://dx.doi.org/10.1109/ccdc.2011.5968940.
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Ashraf, Anam, Jian Hua Liu, and Qasim Rauf. "Aging Population Perception and Post Adoption Behavior About the Usability of Smart Home Technology of Pakistani Culture." In ICCDE 2020: 2020 The 6th International Conference on Computing and Data Engineering. ACM, 2020. http://dx.doi.org/10.1145/3379247.3379248.
Full textReports on the topic "Genotypes and Pakistani population"
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Dechow, Chad Daniel, M. Cohen-Zinder, Morris Soller, et al. Genotypes and phenotypes of telomere length in Holstein cattle, actors or reporters. United States-Israel Binational Agricultural Research and Development Fund, 2020. http://dx.doi.org/10.32747/2020.8134156.bard.
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Selection programs aiming at improving health and survival in cattle are complicated by low heritability estimates, the fact that true herd life and carcass quality is not known until the end of an animal's life, and that many health conditions manifest late in life. Young animals are now heavily favored in breeding programs because low generation intervals accelerate the rate of genetic progress, which means selection decisions must be made before phenotypic observation of health and survival is feasible. Moreover, profitability is compromised when livestock producers raise animals that fail to produce due to health failure or that do not meet quality standards. Telomere length (TL) was hypothesized as a biomarker that could be recorded early in life, be associated with health and survival, and have higher heritability than other measures of health. Thus, our research aims were to: 1, determine associations of TL with health, wellbeing and production in Holsteins raised for dairy or beef purposes; 2, determine TL heritability, genetic variance, and genetic correlations with cow health and performance; and 3, map quantitative trait loci affecting TL and provide TL genomic predictions to industry partners and breeders. There were not significant changes made to the research plan during the project, but the timeline of the project was not met. Laboratory processing of samples was significantly delayed due to Covid along with some sample collection. TL measurements from >1100 animals across the US and Israel are available to date. TL declines modestly with age, in agreement with observations from other species. A genomic analysis was conducted using a single-step approach and TL had a moderate heritability estimate of 20% across age groups. The initial genome-wide association-analysis indicated that TL is a quantitative trait whose expression is influenced by effects across the genome. Moreover, there is a strong association of calf and dam TL at birth. Genetic relationships with health and survival were ascertained through correlations of genomic estimated breeding values (gEBV) for TL with gEBV for other traits routinely recording in national genetic evaluations. Higher TL is genetically associated with longer herd-life, a greater likelihood that cows will avoid premature on-farm death, and reduced disease incidence. The relationship appeared to be strongest when TL was measured during the first two years of life. Based on genotyping different cell types, there was evidence that maternal and colostral derived cells are present in newborns, which could bias TL measurements during the first weeks of life to a small degree. The implications of this research are that TL is a promising trait to include in multiple trait selection programs because it is heritable, available early in life, and correlated with longevity and health. Our TL reference population is currently being expanded, and genomic estimated breeding values will be disseminated to industry partners upon completion of the reference population so that they can evaluate the utility of incorporating TL into their breeding programs.
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Torrungruang, Kitti, Soranun Chantarangsu, and Thanyachai Sura. Association between vitamin D receptor gene polymorphisms and chronic periodontitis in Thais. Chulalongkorn University, 2015. https://doi.org/10.58837/chula.res.2015.18.
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Polymorphisms of the vitamin D receptor (VDR) gene have been implicated in the susceptibility to infections and bone-related diseases. However, their relationship with periodontal disease remains unclear. This cross-sectional study investigated whether the susceptibility to chronic periodontitis in a Thai population is associated with VDR polymorphisms. Genomic DNA was obtained from 1,460 subjects, aged 39-65 years. Genotyping of VDR polymorphisms (FokI, BsmI, ApaI, and TaqI) was performed using real-time polymerase chain reaction. Subjects were categorized into three groups; no/mild, moderate, and severe periodontitis. Multinomial logistic regression analysis was used to determine the degree of association between VDR polymorphisms and periodontal status adjusted for age, gender, education, smoking, and diabetes. The CC+CT genotypes of FokI polymorphism were associated with moderate and severe periodontitis with odds ratios (OR) of 1.4 (95% CI 1.0-1.9) and 2.0 (95% CI 1.3-2.9), respectively. There was no significant relationship between the other VDR polymorphisms or BsmI-ApaI-TaqI haplotypes and periodontitis. To examine gene-smoking interaction, non-smokers with the TT genotype of FokI polymorphism were used as the reference group for all comparisons. Current smokers who had the CC+CT genotypes presented the highest risk of severe periodontitis with an OR of 10.4 (95% CI 4.9-22.1), whereas their counterparts with the TT genotype and non-smokers bearing the CC+CT genotypes had an increased risk by 2.7 (95% CI 1.1-6.7) and 2.0 folds (95% CI 1.2-3.4), respectively. The combined effect of FokI polymorphism and current smoking was 3.5 times (95% CI 1.3-9.9) greater than what would be expected from the sum of their individual effects, indicating a significant additive interaction. In conclusion, our data indicate that FokI polymorphism of VDR gene was significantly associated with periodontal disease severity in this study group. We are also the first to demonstrate that FokI polymorphism and smoking synergistically interacted in increasing the risk of chronic periodontitis.
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Wisniewski, Michael E., Samir Droby, John L. Norelli, Noa Sela, and Elena Levin. Genetic and transcriptomic analysis of postharvest decay resistance in Malus sieversii and the characterization of pathogenicity effectors in Penicillium expansum. United States Department of Agriculture, 2014. http://dx.doi.org/10.32747/2014.7600013.bard.
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Blue mold of apple caused by Penicilliumexpansumis a major postharvest disease. Selection for postharvest disease resistance in breeding programs has been ignored in favor of fruit quality traits such as size, color, taste, etc. The identification of postharvest disease resistance as a heritable trait would represent a significant accomplishment and has not been attempted in apple. Furthermore, insight into the biology of the pathogenicity of P. expansumin apple could provide new approaches to postharvest decay management. Hypothesis: Postharvest resistance of apple to P. expansumcan be mapped to specific genetic loci and significant quantitative-trait-loci (QTLs) can be identified that account for a major portion of the population variance. Susceptibility of apple fruit to P. expansumis dependent on the ability of the pathogen to produce LysM effectors that actively suppress primary and/or secondary resistance mechanisms in the fruit. Objectives: 1) Identify QTL(s) and molecular markers for blue mold resistance in GMAL4593 mapping population (‘Royal Gala’ X MalussieversiiPI613981), 2) Characterize the transcriptome of the host and pathogen (P. expansum) during the infection process 3) Determine the function of LysM genes in pathogenicity of P. expansum. Methods: A phenotypic evaluation of blue mold resistance in the GMAL4593 mapping population, conducted in several different years, will be used for QTL analysis (using MapQTL 6.0) to identify loci associated with blue mold resistance. Molecular markers will be developed for the resistance loci. Transcriptomic analysis by RNA-seq will be used to conduct a time course study of gene expression in resistant and susceptible apple GMAL4593 genotypes in response to P. expansum, as well as fungal responses to both genotypes. Candidate resistance genes identified in the transcriptomic study and or bioinformatic analysis will be positioned in the ‘Golden Delicious’ genome to identify markers that co-locate with the identified QTL(s). A functional analysis of LysM genes on pathogenicity will be conducted by eliminating or reducing the expression of individual effectors by heterologous recombination and silencing technologies. LysMeffector genes will also be expressed in a yeast expression system to study protein function. Expected Results: Identification of postharvest disease resistance QTLs and tightly-linked genetic markers. Increased knowledge of the role of effectors in blue mold pathogenic
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ul Haque, Minhaj. Discrimination starts at home: A brief on parents' aspirations for adolescents and youth in Pakistan. Population Council, 2005. http://dx.doi.org/10.31899/pgy19.1009.
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Parents play a critical role in socializing their children and passing on essential information and life skills. The attitudes of parents help determine what young boys and girls do in life, and how they utilize opportunities and develop the skills necessary to make a comfortable transition into adulthood. This brief is based on interviews with Pakistani parents and describes their aspirations, which are likely to influence the lives of young people. More young people aged 15–24 live in Pakistan now than at any other time in its history—an estimated 36 million in 2004. Recognizing the dearth of information on the situation of this large group of young people, the Population Council undertook a nationally representative survey from October 2001 to March 2002. The analysis presented here comes from Adolescents and Youth in Pakistan 2001–02: A Nationally Representative Survey. The survey sought information from youth aged 15–24, responsible adults in the household, and other community members in 254 communities. A total of 6,585 households were visited and 8,074 young people were interviewed.
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Faizunnissa, Azeema. The poverty trap: Leveling the playing field for young people. Population Council, 2005. http://dx.doi.org/10.31899/pgy19.1007.
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Family plays a critical role in young people’s lives and is key in determining the conditions under which young people make important transitions to adulthood. This brief examines the impact of family-level poverty on the educational attainment, economic activity, and marriage patterns of Pakistani youth, and shows how strongly socioeconomic status shapes the lives of future generations. More young people aged 15–24 live in Pakistan now than at any other time in its history—an estimated 36 million in 2004. Recognizing the dearth of information on the situation of this large group of young people, the Population Council undertook a nationally representative survey from October 2001 to March 2002. The analysis presented in this brief comes from Adolescents and Youth in Pakistan 2001–02: A Nationally Representative Survey—the largest such survey focusing on young people. The survey sought information from youth aged 15–24, responsible adults in the household, and other community members in 254 communities. A total of 6,585 households were visited and 8,074 young people were interviewed.
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Breiman, Adina, Jan Dvorak, Abraham Korol, and Eduard Akhunov. Population Genomics and Association Mapping of Disease Resistance Genes in Israeli Populations of Wild Relatives of Wheat, Triticum dicoccoides and Aegilops speltoides. United States Department of Agriculture, 2011. http://dx.doi.org/10.32747/2011.7697121.bard.
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Wheat is the most widely grown crop on earth, together with rice it is second to maize in total global tonnage. One of the emerging threats to wheat is stripe (yellow) rust, especially in North Africa, West and Central Asia and North America. The most efficient way to control plant diseases is to introduce disease resistant genes. However, the pathogens can overcome rapidly the effectiveness of these genes when they are wildly used. Therefore, there is a constant need to find new resistance genes to replace the non-effective genes. The resistance gene pool in the cultivated wheat is depleted and there is a need to find new genes in the wild relative of wheat. Wild emmer (Triticum dicoccoides) the progenitor of the cultivated wheat can serve as valuable gene pool for breeding for disease resistance. Transferring of novel genes into elite cultivars is highly facilitated by the availability of information of their chromosomal location. Therefore, our goals in this study was to find stripe rust resistant and susceptible genotypes in Israeli T. dicoccoides population, genotype them using state of the art genotyping methods and to find association between genetic markers and stripe rust resistance. We have screened 129 accessions from our collection of wild emmer wheat for resistance to three isolates of stripe rust. About 30% of the accessions were resistant to one or more isolates, 50% susceptible, and the rest displayed intermediate response. The accessions were genotyped with Illumina'sInfinium assay which consists of 9K single nucleotide polymorphism (SNP) markers. About 13% (1179) of the SNPs were polymorphic in the wild emmer population. Cluster analysis based on SNP diversity has shown that there are two main groups in the wild population. A big cluster probably belongs to the Horanum ssp. and a small cluster of the Judaicum ssp. In order to avoid population structure bias, the Judaicum spp. was removed from the association analysis. In the remaining group of genotypes, linkage disequilibrium (LD) measured along the chromosomes decayed rapidly within one centimorgan. This is the first time when such analysis is conducted on a genome wide level in wild emmer. Such a rapid decay in LD level, quite unexpected for a selfer, was not observed in cultivated wheat collection. It indicates that wild emmer populations are highly suitable for association studies yielding a better resolution than association studies in cultivated wheat or genetic mapping in bi-parental populations. Significant association was found between an SNP marker located in the distal region of chromosome arm 1BL and resistance to one of the isolates. This region is not known in the literature to bear a stripe rust resistance gene. Therefore, there may be a new stripe rust resistance gene in this locus. With the current fast increase of wheat genome sequence data, genome wide association analysis becomes a feasible task and efficient strategy for searching novel genes in wild emmer wheat. In this study, we have shown that the wild emmer gene pool is a valuable source for new stripe rust resistance genes that can protect the cultivated wheat.
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Weller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu, and George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, 2015. http://dx.doi.org/10.32747/2015.7600017.bard.
Full textAbstract:
The project’s general objectives were to determine specific polymorphisms at the DNA level responsible for observed quantitative trait loci (QTLs) and to estimate their effects, frequencies, and selection potential in the Holstein dairy cattle breed. The specific objectives were to (1) localize the causative polymorphisms to small chromosomal segments based on analysis of 52 U.S. Holstein bulls each with at least 100 sons with high-reliability genetic evaluations using the a posteriori granddaughter design; (2) sequence the complete genomes of at least 40 of those bulls to 20 coverage; (3) determine causative polymorphisms based on concordance between the bulls’ genotypes for specific polymorphisms and their status for a QTL; (4) validate putative quantitative trait variants by genotyping a sample of Israeli Holstein cows; and (5) perform gene expression analysis using statistical methodologies, including determination of signatures of selection, based on somatic cells of cows that are homozygous for contrasting quantitative trait variants; and (6) analyze genes with putative quantitative trait variants using data mining techniques. Current methods for genomic evaluation are based on population-wide linkage disequilibrium between markers and actual alleles that affect traits of interest. Those methods have approximately doubled the rate of genetic gain for most traits in the U.S. Holstein population. With determination of causative polymorphisms, increasing the accuracy of genomic evaluations should be possible by including those genotypes as fixed effects in the analysis models. Determination of causative polymorphisms should also yield useful information on gene function and genetic architecture of complex traits. Concordance between QTL genotype as determined by the a posteriori granddaughter design and marker genotype was determined for 30 trait-by-chromosomal segment effects that are segregating in the U.S. Holstein population; a probability of <10²⁰ was used to accept the null hypothesis that no segregating gene within the chromosomal segment was affecting the trait. Genotypes for 83 grandsires and 17,217 sons were determined by either complete sequence or imputation for 3,148,506 polymorphisms across the entire genome. Variant sites were identified from previous studies (such as the 1000 Bull Genomes Project) and from DNA sequencing of bulls unique to this project, which is one of the largest marker variant surveys conducted for the Holstein breed of cattle. Effects for stature on chromosome 11, daughter pregnancy rate on chromosome 18, and protein percentage on chromosome 20 met 3 criteria: (1) complete or nearly complete concordance, (2) nominal significance of the polymorphism effect after correction for all other polymorphisms, and (3) marker coefficient of determination >40% of total multiple-regression coefficient of determination for the 30 polymorphisms with highest concordance. The missense polymorphism Phe279Tyr in GHR at 31,909,478 base pairs on chromosome 20 was confirmed as the causative mutation for fat and protein concentration. For effect on fat percentage, 12 additional missensepolymorphisms on chromosome 14 were found that had nearly complete concordance with the suggested causative polymorphism (missense mutation Ala232Glu in DGAT1). The markers used in routine U.S. genomic evaluations were increased from 60,000 to 80,000 by adding markers for known QTLs and markers detected in BARD and other research projects. Objectives 1 and 2 were completely accomplished, and objective 3 was partially accomplished. Because no new clear-cut causative polymorphisms were discovered, objectives 4 through 6 were not completed.
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Hovav, Ran, Peggy Ozias-Akins, and Scott A. Jackson. The genetics of pod-filling in peanut under water-limiting conditions. United States Department of Agriculture, 2012. http://dx.doi.org/10.32747/2012.7597923.bard.
Full textAbstract:
Pod-filling, an important yield-determining stage is strongly influenced by water stress. This is particularly true for peanut (Arachishypogaea), wherein pods are developed underground and are directly affected by the water condition. Pod-filling in peanut has a significant genetic component as well, since genotypes are considerably varied in their pod-fill (PF) and seed-fill (SF) potential. The goals of this research were to: Examine the effects of genotype, irrigation, and genotype X irrigation on PF and SF. Detect global changes in mRNA and metabolites levels that accompany PF and SF. Explore the response of the duplicate peanut pod transcriptome to drought stress. Study how entire duplicated PF regulatory processes are networked within a polyploid organism. Discover locus-specific SNP markers and map pod quality traits under different environments. The research included genotypes and segregating populations from Israel and US that are varied in PF, SF and their tolerance to water deficit. Initially, an extensive field trial was conducted to investigate the effects of genotype, irrigation, and genotype X irrigation on PF and SF. Significant irrigation and genotypic effect was observed for the two main PF related traits, "seed ratio" and "dead-end ratio", demonstrating that reduction in irrigation directly influences the developing pods as a result of low water potential. Although the Irrigation × Genotype interaction was not statistically significant, one genotype (line 53) was found to be more sensitive to low irrigation treatments. Two RNAseq studies were simultaneously conducted in IL and the USA to characterize expression changes that accompany shell ("source") and seed ("sink") biogenesis in peanut. Both studies showed that SF and PF processes are very dynamic and undergo very rapid change in the accumulation of RNA, nutrients, and oil. Some genotypes differ in transcript accumulation rates, which can explain their difference in SF and PF potential; like cvHanoch that was found to be more enriched than line 53 in processes involving the generation of metabolites and energy at the beginning of seed development. Interestingly, an opposite situation was found in pericarp development, wherein rapid cell wall maturation processes were up-regulated in line 53. Although no significant effect was found for the irrigation level on seed transcriptome in general, and particularly on subgenomic assignment (that was found almost comparable to a 1:1 for A- and B- subgenomes), more specific homoeologous expression changes associated with particular biosynthesis pathways were found. For example, some significant A- and B- biases were observed in particular parts of the oil related gene expression network and several candidate genes with potential influence on oil content and SF were further examined. Substation achievement of the current program was the development and application of new SNP detection and mapping methods for peanut. Two major efforts on this direction were performed. In IL, a GBS approach was developed to map pod quality traits on Hanoch X 53 F2/F3 generations. Although the GBS approach was found to be less effective for our genetic system, it still succeeded to find significant mapping locations for several traits like testa color (linkage A10), number of seeds/pods (A5) and pod wart resistance (B7). In the USA, a SNP array was developed and applied for peanut, which is based on whole genome re-sequencing of 20 genotypes. This chip was used to map pod quality related traits in a Tifrunner x NC3033 RIL population. It was phenotyped for three years, including a new x-ray method to phenotype seed-fill and seed density. The total map size was 1229.7 cM with 1320 markers assigned. Based on this linkage map, 21 QTLs were identified for the traits 16/64 weight, kernel percentage, seed and pod weight, double pod and pod area. Collectively, this research serves as the first fundamental effort in peanut for understanding the PF and SF components, as a whole, and as influenced by the irrigation level. Results of the proposed study will also generate information and materials that will benefit peanut breeding by facilitating selection for reduced linkage drag during introgression of disease resistance traits into elite cultivars. BARD Report - Project4540 Page 2 of 10
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Michelmore, Richard, Eviatar Nevo, Abraham Korol, and Tzion Fahima. Genetic Diversity at Resistance Gene Clusters in Wild Populations of Lactuca. United States Department of Agriculture, 2000. http://dx.doi.org/10.32747/2000.7573075.bard.
Full textAbstract:
Genetic resistance is often the least expensive, most effective, and ecologically-sound method of disease control. It is becoming apparent that plant genomes contain large numbers of disease resistance genes. However, the numbers of different resistance specificities within a genepool and the genetic mechanisms generating diversity are poorly understood. Our objectives were to characterize diversity in clusters of resistance genes in wild progenitors of cultivated lettuce in Israel and California in comparison to diversity within cultivated lettuce, and to determine the extent of gene flow, recombination, and genetic instability in generating variation within clusters of resistance genes. Genetic diversity of resistance genes was analyzed in wild and cultivated germplasm using molecular markers derived from lettuce resistance gene sequences of the NBS-LRR type that mapped to the major cluster if resistance genes in lettuce (Sicard et al. 1999). Three molecular markers, one microsatellite marker and two SCAR markers that amplified LRR- encoding regions, were developed from sequences of resistance gene homologs at the Dm3 cluster (RGC2s) in lettuce. Variation for these markers was assessed in germplasm including 74 genotypes of cultivated lettuce, L. saliva and 71 accessions of the three wild Lactuca spp., L. serriola, L. saligna and L. virosa that represent the major species in the sexually accessible genepool for lettuce. Diversity was also studied within and between natural populations of L. serriola from Israel and California. Large numbers of haplotypes were detected indicating the presence of numerous resistance genes in wild species. We documented a variety of genetic events occurring at clusters of resistance genes for the second objective (Sicard et al., 1999; Woo el al., in prep; Kuang et al., in prepb). The diversity of resistance genes in haplotypes provided evidence for gene duplication and unequal crossing over during the evolution of this cluster of resistance genes. Comparison of nine resistance genes in cv. Diana identified 22 gene conversion and five intergenic recombinations. We cloned and sequenced a 700 bp region from the middle of RGC2 genes from six genotypes, two each from L. saliva, L. serriola, and L. saligna . We have identified over 60 unique RGC2 sequences. Phylogenetic analysis surprisingly demonstrated much greater similarity between than within genotypes. This led to the realization that resistance genes are evolving much slower than had previously been assumed and to a new model as to how resistance genes are evolving (Michelmore and Meyers, 1998). The genetic structure of L. serriola was studied using 319 AFLP markers (Kuang et al., in prepa). Forty-one populations from Turkey, Armenia, Israel, and California as well as seven European countries were examined. AFLP marker data showed that the Turkish and Armenian populations were the most polymorphic populations and the European populations were the least. The Davis, CA population, a recent post-Columbian colonization, showed medium genetic diversity and was genetically close to the Turkish populations. Our results suggest that Turkey - Armenia may be the center of origin and diversity of L. serriola and may therefore have the greatest diversity of resistance genes. Our characterization of the diversity of resistance genes and the genetic mechanisms generating it will allow informed exploration, in situ and ex situ conservation, and utilization of germplasm resources for disease control. The results of this project provide the basis for our future research work, which will lead to a detailed understanding of the evolution of resistance genes in plants.
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Weller, Joel I., Harris A. Lewin, and Micha Ron. Determination of Allele Frequencies for Quantitative Trait Loci in Commercial Animal Populations. United States Department of Agriculture, 2005. http://dx.doi.org/10.32747/2005.7586473.bard.
Full textAbstract:
Individual loci affecting economic traits in dairy cattle (ETL) have been detected via linkage to genetic markers by application of the granddaughter design in the US population and the daughter design in the Israeli population. From these analyses it is not possible to determine allelic frequencies in the population at large, or whether the same alleles are segregating in different families. We proposed to answer this question by application of the "modified granddaughter design", in which granddaughters with a common maternal grandsire are both genotyped and analyzed for the economic traits. The objectives of the proposal were: 1) to fine map three segregating ETL previously detected by a daughter design analysis of the Israeli dairy cattle population; 2) to determine the effects of ETL alleles in different families relative to the population mean; 3) for each ETL, to determine the number of alleles and allele frequencies. The ETL on Bostaurusautosome (BT A) 6 chiefly affecting protein concentration was localized to a 4 cM chromosomal segment centered on the microsatellite BM143 by the daughter design. The modified granddaughter design was applied to a single family. The frequency of the allele increasing protein percent was estimated at 0.63+0.06. The hypothesis of equal allelic frequencies was rejected at p<0.05. Segregation of this ETL in the Israeli population was confirmed. The genes IBSP, SPP1, and LAP3 located adjacent to BM143 in the whole genome cattle- human comparative map were used as anchors for the human genome sequence and bovine BAC clones. Fifteen genes within 2 cM upstream of BM143 were located in the orthologous syntenic groups on HSA4q22 and HSA4p15. Only a single gene, SLIT2, was located within 2 cM downstream of BM143 in the orthologous HSA4p15 region. The order of these genes, as derived from physical mapping of BAC end sequences, was identical to the order within the orthologous syntenic groups on HSA4: FAM13A1, HERC3. CEB1, FLJ20637, PP2C-like, ABCG2, PKD2. SPP, MEP, IBSP, LAP3, EG1. KIAA1276, HCAPG, MLR1, BM143, and SLIT2. Four hundred and twenty AI bulls with genetic evaluations were genotyped for 12 SNPs identified in 10 of these genes, and for BM143. Seven SNPs displayed highly significant linkage disequilibrium effects on protein percentage (P<0.000l) with the greatest effect for SPP1. None of SNP genotypes for two sires heterozygous for the ETL, and six sires homozygous for the ETL completely corresponded to the causative mutation. The expression of SPP 1 and ABCG2 in the mammary gland corresponded to the lactation curve, as determined by microarray and QPCR assays, but not in the liver. Anti-sense SPP1 transgenic mice displayed abnormal mammary gland differentiation and milk secretion. Thus SPP 1 is a prime candidate gene for this ETL. We confirmed that DGAT1 is the ETL segregating on BTA 14 that chiefly effects fat concentration, and that the polymorphism is due to a missense mutation in an exon. Four hundred Israeli Holstein bulls were genotyped for this polymorphism, and the change in allelic frequency over the last 20 years was monitored.