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Journal articles on the topic 'Combined paternity index'
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N.Sh., Mustafayev, Mammadov A.Ch., Mammadov E.R., Huseynova F.R., Hasanov A.B., and Huseynova I.M. "Study Of The Azerbaijan Population By STR Markers: II. Interpopulation Analysis On The Basis of STR Markers' Allele Structure." Journal of Life Sciences and Biomedicine 2017, no. 2 (2017): 5–20. https://doi.org/10.5281/zenodo.7908944.
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Azerbaijan population consisting of 302 individuals was studied using 15-STR markers constituting the main set of human identification, and for each STR locus the forensic and population-genetic parameters were determined. Along with the other parameters, the calculated P-values (PHWE) for the accuracy of the Hardy- Weinberg equilibrium (HWE) tests showed that for our population this parameter had a statistically significant value (PwA=0.0006) only for the vWA locus. The values of parameters for a set of 15 STR loci such as the combined power of exclusion (CPE-0.99999935), combined power of discrimination (CPD-0.9999999999999999965), combined paternity index (CPI-1466339.18) and the probability of paternity (PP-0.99999932) showed that given set of loci can be confidently used in ving of identification our population the D21S11. D2S1338, D18S51 and FGA STR markers are more informative. In addition, comparative analysis of our population with 14 world populations based on the allelic composition of STR markers, allelic frequencies and basic population-genetic parameters have established that there are some degree of differences in the allelic structure of individual loci and the frequencies of the identified alleles between the compared populations. Significant differences are observed both in the region of the most frequent major and in the region of low-frequency minor alleles of STR markers.
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Giannico, Riccardo, Luca Forlani, Valentina Andrioletti, et al. "NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs." Genes 14, no. 2 (2023): 312. http://dx.doi.org/10.3390/genes14020312.
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In 1997, it was discovered that maternal plasma contains Cell-Free Fetal DNA (cffDNA). cffDNA has been investigated as a source of DNA for non-invasive prenatal testing for fetal pathologies, as well as for non-invasive paternity testing. While the advent of Next Generation Sequencing (NGS) led to the routine use of Non-Invasive Prenatal Screening (NIPT or NIPS), few data are available regarding the reliability and reproducibility of Non-Invasive Prenatal Paternity Testing (NIPPT or NIPAT). Here, we present a non-invasive prenatal paternity test (NIPAT) analyzing 861 Single Nucleotide Variants (SNV) from cffDNA through NGS technology. The test, validated on more than 900 meiosis samples, generated log(CPI)(Combined Paternity Index) values for designated fathers ranging from + 34 to + 85, whereas log(CPI) values calculated for unrelated individuals were below -150. This study suggests that NIPAT can be used with high accuracy in real cases.
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Qu, Yiling, Ranran Zhang, Li Qing, et al. "A novel SNP-based approach for non-invasive prenatal paternity testing using multiplex PCR targeted capture sequencing." Journal of Translational Genetics and Genomics 8, no. 4 (2024): 378–93. https://doi.org/10.20517/jtgg.2024.46.
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Objective: To enhance the safety, simplicity, and efficacy of non-invasive prenatal paternity testing, we developed a method based on multiplex PCR targeted capture sequencing technology utilizing single nucleotide polymorphisms (SNPs) as genetic markers. Method: We screened 627 SNPs from public databases and literature based on specific criteria and population genetic data from 100 unrelated individuals. A total of 15 peripheral blood samples were collected from pregnant women and the suspected father. Paternal alleles were detected and analyzed in the plasma cell-free DNA (cfDNA) of pregnant women, fetal SNP genotypes were obtained, and the combined paternity index (CPI) was calculated for paternity testing. Results: Biological fathers were accurately determined in all cases, with CPI values ranging from 1.05 × 1014 to 2.03 × 1034, consistent with results obtained using polymerase chain reaction-capillary electrophoresis (PCR-CE) with short tandem repeats. Significant differences in CPI between unrelated males and biological fathers allowed for straightforward exclusion. Even cfDNA from maternal plasma as early as five gestational weeks enabled accurate paternity determination. Conclusion: This novel approach demonstrates significant improvements by reducing the number of SNPs, streamlining the research procedure, and lowering costs, yielding substantial advancements in non-invasive prenatal paternity testing.
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Song, Wenqian, Nan Xiao, Shihang Zhou, et al. "Non-invasive prenatal paternity testing by analysis of Y-chromosome mini-STR haplotype using next-generation sequencing." PLOS ONE 17, no. 4 (2022): e0266332. http://dx.doi.org/10.1371/journal.pone.0266332.
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Objectives To assess the efficacy of Y-chromosome mini-STR-based next-generation sequencing (NGS) for non-invasive prenatal paternity testing (NIPPT). Methods DNA was extracted from the plasma of 24 pregnant women, and cell-free fetal DNA (cffDNA) haplotyping was performed at 12 Y-chromosome mini-STR loci using the Illumina NextSeq 500 system. The cffDNA haplotype was validated by the paternal haplotype. Subsequentlly, the paternity testing parameters were attributed to each case quantitatively. Results The biological relationship between the alleged fathers and infants in all 24 family cases were confirmed by capillary electrophoresis (CE). The Y-chromosome mini-STR haplotypes of all 14 male cffDNA were obtained by NGS without any missing loci. The alleles of cffDNA and paternal genomic DNA were matched in 13 cases, and a mismatched allele was detected at the DYS393 locus in one case and considered as mutation. No allele was detected in the 10 female cffDNA. The combined paternity index (CPI) and probability of paternity calculation was based on 6 loci Y-haplotype distributions of a local population. The probability of paternity was 98.2699–99.8828% for the cases without mutation, and 14.8719% for the case harboring mutation. Conclusions Our proof-of-concept study demonstrated that Y-chromosome mini-STR can be used for NGS-based NIPPT with high accuracy in real cases, and is a promising tool for familial searching, paternity exclusion and sex selection in forensic and medical applications.
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Shen, Xuefeng, Ran Li, Haixia Li, et al. "Noninvasive Prenatal Paternity Testing with a Combination of Well-Established SNP and STR Markers Using Massively Parallel Sequencing." Genes 12, no. 3 (2021): 454. http://dx.doi.org/10.3390/genes12030454.
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Cell-free fetal DNA (cffDNA) from maternal plasma has made it possible to develop noninvasive prenatal paternity testing (NIPPT). However, most studies have focused on customized single nucleotide polymorphism (SNP) typing systems and few have used conventional short tandem repeat (STR) markers. Based on massively parallel sequencing (MPS), this study used a widely-accepted forensic multiplex assay system to evaluate the effect of noninvasive prenatal paternity testing with a combination of well-established SNP and STR markers. Using a ForenSeq DNA Signature Prep Kit, NIPPT was performed in 17 real parentage cases with monovular unborn fetuses at 7 to 24 gestational weeks. Different analytical strategies for the identification of paternally inherited allele (PIA) were developed to deal with SNPs and STRs. Combined paternity index (CPI) for 17 real trios as well as 272 unrelated trios was calculated. With the combination of SNPs and A-STRs, 82.35% (14/17), 88.24% (15/17), 94.12% (16/17), and 94.12% (16/17) of real trios could be accurately determined when the likelihood ratio (LR) threshold for paternity inclusion was set to 10,000, 1000, 100, and 10, respectively. This reveals that simultaneous surveys of SNP and STR markers included in the ForenSeq DNA Signature Prep Kit offer a promising method for NIPPT using MPS technology.
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Góes, Andréa Carla de Souza, Dayse Aparecida da Silva, Cristiane Santana Domingues, João Marreiro Sobrinho, and Elizeu Fagundes de Carvalho. "Identification of a criminal by DNA typing in a rape case in Rio de Janeiro, Brazil." Sao Paulo Medical Journal 120, no. 3 (2002): 77–79. http://dx.doi.org/10.1590/s1516-31802002000300004.
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CONTEXT: Human DNA identification is a powerful tool for paternity cases as well as for criminal investigation, in which biological evidence is typed after collection from crime scenes and for the identification of human remains. OBJECTIVE: Identification of a criminal in a rape case with 4 suspects using STR and VNTR DNA analysis. TYPE OF STUDY: Forensic DNA analysis. SETTING: DNA Diagnostic Laboratory, Universidade Estadual do Rio de Janeiro, Brazil. PARTICIPANTS: Blood from 4 suspects and the victim, and skin from the fetus. PROCEDURES: Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). RESULTS: Three of the suspects were excluded and one of them was identified as the biological father of the fetus after typing with CTT and FFv Multiplexes. Complementary DNA typing at 3 VNTR loci was also carried out. CONCLUSIONS: After typing four suspects using 6 STR loci, one of them was identified as the biological father of the fetus. In order to significantly enhance the Combined Paternity Index (PI), complementary DNA typing in 3 VNTR loci was carried out. The included suspect was found to be the biological father with a PI of 412,860 (Probability of Paternity: 99.9997%).
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Kotova, S. A., N. S. Parfionava, T. V. Zabauskaya, et al. "Variability of 27 Autosomal STR Loci for the Population of the Republic of Belarus Based on the Mass Parallel Sequencing Data." Генетика 59, no. 3 (2023): 356–66. http://dx.doi.org/10.31857/s0016675823030074.
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Variability of 27 autosomal STR loci of the ForenSeq DNA Signature Prep Kit (Illumina) commercial panel was studied using the technology of mass parallel sequencing (MPS) in 733 unrelated individuals representing the population of the Republic of Belarus as well as a population base of MPS allele frequencies for expert probabilistic calculations in human identification and paternity establishment was evaluated. The agreement between genotypes obtained by MPS and capillary electrophoresis (CE) was 99.96%. The number of MPS alleles increased more than two times for eight loci (D12S391, D21S11, D2S1338, vWA, D3S1358, D8S1179, D13S317, D9S1122). Thirteen alleles detected were not included in the STRSeq BioProject catalog of the international online database STRbase 2.0. The random match probability of 27-locus MPS profiles decreased from 1.43 × 10–31 to 2.89 × 10–35, and the combined paternity index increased from 2.08 × 1010 to 3.25 × 1012 compared to CE data.
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Hasan, Md Mahamud, Md Hadisur Rahman, and Sharif Akhteruzzaman. "Genetic polymorphism and phylogenetic analysis of 15 autosomal STR markers in the Santal indigenous population of Bangladesh." Bioresearch Communications 7, no. 2 (2021): 1004–9. http://dx.doi.org/10.3329/brc.v7i2.54375.
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Fifteen autosomal STR markers, namely D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA were typed using AmpFlSTR® Identifiler® Plus PCR amplification systems in 132 unrelated Santal individuals of Bangladesh. Forensic efficiency parameters like, matching probability (MP), power of discrimination (PD), polymorphism information content (PIC), power of exclusion (PE), typical paternity index (TPI), observed heterozygosity (Hobs), and expected heterozygosity (Hexp) were calculated for all the loci. No deviations from Hardy-Weinberg equilibrium were detected for the loci after Bonferroni correction. The combined matching probability (MP), combined power of discrimination (PD) and combined power of exclusion (PE) for the 15 tested STR markers were 8.38 x 10-17, 0.999999998 and 0.0.999993866, respectively. A comparison of the locus wise allele frequencies of autosomal STR data of the Santal population with the published geographically close population data based on Nei’s genetic distance revealed that the Santal population is closely related to Munda population from Jharkhand, India.
 Bioresearch Commu. 7(2): 1004-1009, 2021 (June)
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Kofi Adjapong, Afrifah, Badu-Boateng Alexander, Antwi-Akomeah Samuel, et al. "Genetic identification of three exhumed human remains at a hospital in Ghana: a forensic case report." Journal of Forensic Science and Research 6, no. 1 (2022): 006–11. http://dx.doi.org/10.29328/journal.jfsr.1001030.
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DNA identification is very important in cases of high decomposition of dead bodies, in which the bodies cannot be identified by physical means. To compare the results of DNA typing, it is necessary to have related subjects with which to perform comparative analyses. Such tests are normally performed by comparing DNA profiles from people known to be immediate family members of the presumptive victim, such as parents or children because they share half of their genetic material with the unidentified. We report on how DNA analysis was used to solve a case of mixed-up bodies at a local mortuary in Ghana, West Africa. Two families and three buried human remains were in contention in this case. The first body (E9) was buried three months before exhumation. The second body (E11) was buried two and a half months before exhumation whiles the third body (E10) was buried a month before exhumation. Exhibit E5 was taken from an alleged child of the deceased, E11. Toenails of the exhumed bodies were sampled by a pathologist and used for DNA extractions using the QIAamp DNA Investigator Kit. Profiles from relatives were generated for comparison purposes. All samples gave a quality amount of genomic DNA after quantification. DNA was amplified with a GlobalFiler PCR amplification kit. Profiles from relatives were generated for comparison purposes. The human remains (exhibit E11) cannot be excluded as the biological father of the child (exhibit E5) because they share common alleles at all 23 genetic loci. The applicable combined paternity index was 17218125604.492 assuming a prior probability of 0.5. The probability of paternity is 99.99999999%. Based on this relationship testing, one of the bodies was successfully identified and handed over to the family for re-burial.
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Mei, Shuyan, Yanfang Liu, Congying Zhao, Hui Xu, Shuanglin Li, and Bofeng Zhu. "The Polymorphism Analyses of Short Tandem Repeats as a Basis for Understanding the Genetic Characteristics of the Guanzhong Han Population." BioMed Research International 2021 (February 25, 2021): 1–13. http://dx.doi.org/10.1155/2021/8887244.
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The short tandem repeat (STR) loci are polymorphic markers in the combined DNA index system (CODIS) and non-CODIS STR loci. Due to the highly polymorphic characteristic of STR loci, they are popular and widely used in forensic DNA typing laboratories. In this study, 22 STR loci (1 CODIS, 21 non-CODIS STR loci) and an Amelogenin locus were genotyped and analyzed in 590 unrelated individuals of the Guanzhong Han population. None of the 22 STR loci deviated from the Hardy–Weinberg equilibrium, and all the loci were in the linkage equilibrium state. We observed 247 alleles, and the corresponding allelic frequencies ranged from 0.0008 to 0.3695 in the Guanzhong Han population. The combined power of discrimination and the cumulative exclusion probability was 0.999 999 999 999 999 999 999 999 999 346 36 and 0.999 999 999 709 74, respectively. The results including Nei’s D A genetic distance, multidimensional scaling analysis, and principal component analysis showed that the Guanzhong Han population has closer genetic affinities with Northern Han, Chengdu Han, and Xinjiang Hui groups from China based on allelic frequencies of 15 overlapped STR loci from Guanzhong Han and 13 reference groups. The present results indicated that Microreader™ 23sp ID kit included highly polymorphic loci, and it could be well used for individual identification, paternity testing, and population genetics in the Guanzhong Han population.
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Panneerchelvam, Sundararajulu, and Norazmi Mohd Nor. "DNA Profiling in Human Identification: From Past to Present." Malaysian Journal of Medical Sciences 30, no. 6 (2023): 5–21. http://dx.doi.org/10.21315/mjms2023.30.6.2.
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Forensic DNA typing has been widely accepted in the courts all over the world. This is because DNA profiling is a very powerful tool to identify individuals on the basis of their unique genetic makeup. DNA evidence is capable of not only identifying the presence of specific biospecimens in a crime scene, but it is also used to exonerate suspects who are innocent of a crime. Technological advancements in DNA profiling, including the development of validated kits and statistical methods have made this tool to be more precise in forensic investigations. Therefore, validated combined DNA index system (CODIS) short tandem repeats (STRs) kits which require very small amount of DNA, coupled with real-time polymerase chain reaction (PCR) and the statistical strengths are used routinely to identify human remains, establish paternity or to match suspected crime scene biospecimens. The road to modern DNA profiling has been long, and it has taken scientists decades of work and fine tuning to develop highly accurate testing and analyses that are used today. This review will discuss the various DNA polymorphisms and their utility in human identity testing.
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Citra Manela, Citra x., Rika Susanti, Djong Hon Tjong, and Ahmad Yudianto. "GENETIC ANALYSIS 21 SHORT TANDEM REPEATS (STR) LOCUS IN MINANGKABAU POPULATION, WEST SUMATERA, INDONESIA." African Journal of Infectious Diseases 16, no. 2 (2022): 35–41. http://dx.doi.org/10.21010/ajid.v16i2.4.
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Background: Minangkabau is the majority ethnic group in West Sumatra, Indonesia. West Sumatra is a disaster area, especially earthquakes and the potential for a tsunami. Allele frequency for 21 short tandem repeat locus and genetic variation are not well known. This data is essential for calculating the Paternity Index and Match Probability for forensic identification. Materials and methods: This was an observational study. We analyze the GlobalFiller STR loci in 25 unrelated individuals from Minangkabau ethnic group. The DNA was extracted using a Prefiller kit and amplified with a Global Filler kit by a GeneAmp PCR System, followed by capillary electrophoresis using ABI Prism 3500 Genetic Analyzer. Data analysis was performed by using Easy DNA and FORSTAT software. Results: We observed 162 alleles with allele frequencies between 0.02 – 0.36. The highest expected heterozygosity and the highest power of discrimination were at the SE33 loci, and the highest match probability was at the D2S441 locus. The Chi-square test showed that all STR loci followed Hardy–Weinberg equilibrium (p > 0.05). All loci were highly polymorphic (PIC > 0.5). The combined discrimination capacity of each locus in the population was 99,999%. Conclusion: The 21 STR loci are useful for forensic analysis and population genetic studies of the Minangkabau population.
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Haidar, Mahdi, Hussain Alsaleh, and Penelope R. Haddrill. "Population genetics of 30 insertion/deletion polymorphisms in the Kuwaiti population." International Journal of Legal Medicine 134, no. 3 (2019): 985–86. http://dx.doi.org/10.1007/s00414-019-02180-4.
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AbstractThis study evaluates the forensic utility of the 30 insertion and deletion (indel) markers contained in the Qiagen Investigator® DIPplex kit in the Kuwaiti population (n = 150). All but one of the 30 markers were shown to conform to the expectations of the Hardy-Weinberg Equilibrium. Linkage disequilibrium tests showed no statistically significant deviation from independence. The high combined power of discrimination (CPD > 99.999%) and low combined match probability (CMP) of 2.736 × 10−13 provide a satisfactory level of discrimination, allowing the DIPplex loci to be used as forensic markers for individual identification in Kuwait. The paternity indices indicate the usefulness of the DIPplex kit as a supplementary typing system for challenging paternity cases in Kuwait.
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A. Messaoudi, Safia, Malak A. Alamri, Saranya R. Babu, et al. "Evaluation of Forensic Genetic Parameters of 24 STR Loci and Y indel in a Southern Region Saudi Population Sample Using GlobalFiler™ PCR Amplification Kit." Arab Journal of Forensic Sciences and Forensic Medicine 3, no. 2 (2021): 245–59. http://dx.doi.org/10.26735/uwka5726.
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The last three decades have seen rapid advances in the field of short tandem repeats (STRs) genotyping technology. Autosomal STRs have emerged as a powerful tool in forensic identification and paternity investigations. The indigenous population of Saudi Arabia is irregularly distributed and has historically been organized into geographically distinct groups or tribes of patrilineal descent. So far, there has been no detailed investigation of the southern region Saudi population to assist in the interpretation of DNA-based forensic evidence and in the construction of DNA database. The objective of this study is to investigate the genetic structure in 154 unrelated healthy Saudi subjects within three generations from the southern Saudi regions using a GlobalFiler™ PCR Amplification kit. Intra- and Inter-population genetic diversity as well as the forensic genetics parameters were analyzed. Our results showed that SE33 and TPOX loci were the most and the least polymorphic loci, respectively. The PIC, PE, TPI, Ho and He varied from 0.56116 (TPOX) to 0.94393 (SE33), 0.26638 (TPOX) to 0.83859 (SE33), 1.1875 (TPOX) to 6.33333 (SE33), 0.57894 (TPOX) to 0.92105 (SE33) and 0.6169 (TPOX) to 0.952 (SE33), respectively. The highest PM was observed for D22S1045 (0.223944) and the highest PD for SE33 (0.98935). The combined PD was 99.99999999% and the combined PM was equal to 3.19021E-25. Phylogenetic parameters showed that the southern region Saudi population had the closest genetic relationship with the Saudi, Emirati, Kuwaiti, and Bahraini populations. The study offers some important insights into the southern region Saudi population structure using GlobalFiler™ PCR Amplification kit.
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Du, Weian, Chunlei Feng, Ting Yao, et al. "Genetic variation and forensic efficiency of 30 indels for three ethnic groups in Guangxi: relationships with other populations." PeerJ 7 (May 3, 2019): e6861. http://dx.doi.org/10.7717/peerj.6861.
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Aim In this study, we used a series of diallelic genetic marker insertion/deletion polymorphism (indel) to investigate three populations of Yao, Kelao, and Zhuang groups in the Guangxi region of China and to evaluate their efficiency in forensic application. Result No deviations for all 30 loci were observed from the Hardy–Weinberg equilibrium after Bonferroni correction (p > 0.05/30 = 0.0017). The allele frequencies of the short allele (DIP-) for the above three populations were in the range of 0.0520–0.9480, 0.0950–0.8780, and 0.0850–0.915, respectively. The observed heterozygosity of the 30 loci for the three populations was in the ranges 0.0802–0.5802, 0.1908–0.6053, and 0.1400–0.5600, respectively. The cumulative power of exclusion and combined discrimination power for Yao, Kelao, and Zhuang groups were (0.9843 and 0.9999999999433), (0.9972 and 0.9999999999184), and (0.9845 and 0.9999999999608), respectively. The DA distance, principal component analysis, and cluster analysis indicated a clear regional distribution. In addition, Zhuang groups had close genetic relationships with the Yao and Kelao populations in the Guangxi region. Conclusion This study indicated that the 30 loci were qualified for personal identification; moreover, they could be used as complementary genetic markers for paternity testing in forensic cases for the studied populations.
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Feng, Yuhang, Ting Wang, Yunteng Yang, et al. "Genetic features and phylogenetic relationship analyses of Guizhou Han population residing in Southwest China via 38 X-InDels." PeerJ 11 (March 8, 2023): e14964. http://dx.doi.org/10.7717/peerj.14964.
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Background The insertion/deletion polymorphism (InDel), an ideal forensic genetic marker with a low spontaneous mutation rate and small amplification product fragments, is widely distributed in the genome, combining the advantages of STR and SNP genetic markers. The X-chromosome has high application value in complex paternity testing, and it is an excellent system for evaluating population admixture and studying evolutionary anthropology. However, further research is needed on the population genetics of X-chromosome InDels (X-InDels). Methods In this article, a system composed of 38 X-InDel loci was utilized to analyse and evaluate the forensic parameters of the Guizhou Han population in order to explore its forensic application efficiency. Results The results showed that expected heterozygosities spanned from 0.0189 to 0.5715, and the cumulative power of discrimination of the 32 X-InDels and three linkage blocks was 0.9999999954 and 0.999999999999741 for males and females, respectively. The combined mean exclusion chance of these loci for trios and duos is 0.999999 and 0.999747, respectively. Multiple methods like principal component analysis, Fst genetic distance, and phylogenetic reconstruction were employed for dissecting the genetic structure of the Guizhou Han population by comparing it with previously reported populations. As expected, the studied Han population displayed relatively close genetic affinities with the East Asian populations. At the same time, there were obvious genetic differentiations between the Guizhou Han population and other continental populations that were discerned, especially for the African populations. Conclusions This study further verified the applicability of 38 X-InDels for human personal identification and kinship analyses of Han Chinese, and also showed the application potential of X-InDels in population genetics.
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Abdul Hameed, Hafsah Muhammad, Muhammad Ajmal, and Nayyer Siddique. "Investigation of Paternally Inherited Allele Mutation at Short Tandem Repeat (STR) Locus D7S820 Leading to Parent-Child Mismatch." Proceedings of the Pakistan Academy of Sciences: B. Life and Environmental Sciences 61, no. 4 (2024). https://doi.org/10.53560/ppasb(61-4)912.
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During paternity investigation with Identifiler™ set of autosomal Short Tandem Repeats (STRs), a genetic mismatch was observed with D7S820 between the disputed father and child. The genotype at this locus in the disputed father, mother and child was 10/10, 11/12 and 11/11, respectively. The combined paternity index and probability of paternity after including the mutation in the calculation were 7.6×107 and 0.9998, respectively. Both values supported the suspicious father as the biological father of the child. Further analysis of Y-STRs revealed matching of all the alleles of the child with that of the suspicious father. It suggested that the mismatch at the D7S820 locus might be a case of mutation. DNA sequencing of D7S820 PCR products of the child and both the parents helped in determining that the child inherited the expanded repeat of the paternal allele 10, which was transmitted as allele 11 in the child from the suspicious father.
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Huang, Shimei, Xiaoye Jin, Hongling Zhang, et al. "Developmental Validation of the Novel Five-Dye-Labeled Multiplex Autosomal STR Panel and Its Forensic Efficiency Evaluation." Frontiers in Genetics 13 (May 31, 2022). http://dx.doi.org/10.3389/fgene.2022.897650.
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Short tandem repeats (STRs) are the most frequently used genetic markers in forensic genetics due to their high genetic diversities and abundant distributions in the human genome. Currently, the combined DNA index system is commonly incorporated into various commercial kits for forensic research. Some novel STRs that are different from the combined DNA index system were not only used to assess complex paternity cases but also could provide more genetic information and higher forensic efficiency in combination with those commonly used STRs. In this study, we validated forensic performance of a novel multiplex amplification STR panel to evaluate its sensitivity, species specificity, forensic application values, and so on. Obtained results revealed that the kit showed high sensitivity, and the complete allelic profile could be observed at 0.125 ng DNA sample. In addition, the kit possessed high species specificity, good tolerance to common inhibitors, and accurate genotyping ability. More importantly, STRs out of the kit displayed high discrimination power and probability of exclusion. To sum up, the novel kit presented in this study can be viewed as a promising tool for forensic human identification and complex paternity analysis.
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Damour, Géraldine, Karine Baumer, Hélène Legardeur, and Diana Hall. "Early noninvasive prenatal paternity testing by targeted fetal DNA analysis." Scientific Reports 13, no. 1 (2023). http://dx.doi.org/10.1038/s41598-023-39367-0.
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AbstractToday the challenge in paternity testing is to provide an accurate noninvasive assay that can be performed early during pregnancy. This requires the use of novel analytical methods capable of detecting the low fraction of circulating fetal DNA in maternal blood. We previously showed that forensic compound markers such as deletion/insertion polymorphisms-short tandem repeats (DIP-STR) can efficiently resolve complex mixed biological evidence including the target analysis of paternally inherited fetal alleles. In this study, we describe for the first time the validation of this type of markers in the first trimester of pregnancies, in addition to defining the statistical framework to evaluate paternity. To do so, we studied 47 DIP-STRs in 87 cases, with blood samples collected throughout gestation starting from the seven weeks of amenorrhea. Fetal DNA detection in the first trimester shows a false negative rate as low as 6%. The combined paternity index (CPI) results indicate that seven markers with fully informative genotypes are sufficient to determine the paternity. This study demonstrates that DIP-STR markers can be used from early pregnancy and that a small set of markers (about 40) is sufficient to address the question of paternity. The novel method offers substantial improvements over similar approaches in terms of reduced number of markers, lower costs and increased accuracy.
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Şentürk, Nursen, Sebahat Dilara Taşkın, Özden Çobanoğlu, and Sena Ardıclı. "Individual Identification and Assessment of Genetic Diversity Using Microsatellite Markers in Racing Pigeons Raised in Turkiye." Journal of Research in Veterinary Medicine, June 5, 2024. http://dx.doi.org/10.30782/jrvm.1468165.
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The implementation of a swift and economical molecular genetic approach, ensuring both efficacy and cost-effectiveness and facilitating population certification, is of utmost significance for breeders and the conservation of Turkiye's native pigeon biodiversity. In this study, we aimed to examine the genetic structure of racing pigeons (Columba livia domestica) raised in Turkiye using a genetic marker panel consisting of eight short tandem repeat (STR) loci. For this purpose, DNA was isolated from the shed feathers of 216 pigeons. Genomic DNA was amplified using the multiplex allele-specific PCR and subsequent capillary electrophoresis with ABI PRISM 3130XL Genetic Analyzer. Next, PCR products were analyzed in the GeneMapper Software program (Applied Biosystems). For parent testing, paternity index (PI), combined paternity index (CPI), and cumulative probability of paternity (CPP) were calculated. Furthermore, population genetic diversity was evaluated using heterozygosity (He), polymorphism information content (PIC), and Hardy–Weinberg equilibrium (HWE) testing. Results revealed that the total number of alleles is 81 and the number of alleles per locus varies between 4 and 19. The similarity rate between parent and offspring was calculated as 99.99% and above. Since no pedigree information was given when the samples were analyzed, obtaining this similarity ratio demonstrates the reliability of the panel. He values range from 0.362 to 0.919, and the PIC values range from 0.295 to 0.909. Loci PG-1, PG-2, and PG-3 show significant genetic diversity, with moderate to high PIC values reflecting varied allele frequencies in the population. Consequently, the set of seven STR markers (+ one sex marker) can be applied to identify and confirm parentage on a regular basis, thereby facilitating efficient breeding programs and ensuring genetic diversity conservation. This panel enables efficient pedigree analysis and gender determination, optimizing cost-effectiveness. The methodology presented in this study is ideal for pedigree analysis and breed certification in the Turkish pigeon breeding industry. Consequently, we affirm that the study data carries considerable national importance.
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Lan, Jiangwei, Xingru Zhang, Wei Cui, Shuyan Mei, Jingtao Xu, and Bofeng Zhu. "Genetic polymorphisms and population genetic analyses of 57 autosomal InDel loci in Hubei Tujia group." Frontiers in Genetics 14 (March 3, 2023). http://dx.doi.org/10.3389/fgene.2023.1066655.
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Introduction: The Tujia is the eighth most populous population in China, but its genetic structure has not been fully studied.Methods: In this study, we utilized 57 autosomal Insertion/deletion (InDel) loci to evaluate the genetic polymorphisms and efficiency of forensic applications in the Chinese Hubei Tujia group, and analyzed the genetic structure variances among the studied group and other 26 different reference populations from five continents in 1000 Genomes Project (1KG).Results: The results showed that 57 InDels have no significant deviations from Hardy–Weinberg equilibrium and linkage equilibrium. The combined power of discrimination (CPD) and the combined probability of exclusion (CPE) values for 57 InDels were 0.99999999999999999999999699822 and 0.999975177214539 in the Hubei Tujia group, respectively. In addition, the results of genetic structure analyses indicated that the Hubei Tujia group has close genetic relationships with the Chinese Han population and other East Asian populations.Discussion: These 57 autosomal InDels can be used as reliable tools for forensic individual identification and paternity testing, and are more suitable for East Asian populations. Furthermore, three InDels (rs72085595, rs145941537, and rs34529639) are promising for inferring ancestral information.
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Yao, Yining, Qiqi Ji, Zhimin Li, et al. "Development of a 39 MM‐InDel multiplex assay for the forensic application." ELECTROPHORESIS, November 30, 2023. http://dx.doi.org/10.1002/elps.202300181.
Full textAbstract:
AbstractInsertion/deletion polymorphisms (InDels) are a category of highly prevalent markers in the human genome, characterized by their distinctive attributes, including short amplicon sizes and low mutation rates, which have shown great potential in forensic applications. Multi‐allelic InDel and multi‐InDel markers, collectively abbreviated as MM‐InDels, were developed to enhance polymorphism by the introduction of novel alleles. Nevertheless, the relatively low mutation rates of InDels, coupled with the founder effect, result in distinct allele frequency distributions among populations. The divergent characteristics of InDels in different populations also pose challenges to the establishment of universally efficient InDel multiplex assays. To enhance the system efficiency of the InDel assay and its applicability across diverse populations, 39 MM‐InDels with high polymorphism in five different ancestry superpopulations were selected from the 1000 Genomes Project dataset and combined with an amelogenin gender marker to construct a multiplex assay (named MMIDplex). The combined power of discrimination and the cumulative probability of exclusion of 39 MM‐InDels were 1 − 1.3 × 10−23 and 1 − 9.83 × 10−6 in the Chinese Han population, and larger than 1–10−19 and 1–10−4 in the reference populations, relatively. These results demonstrate that the MMIDplex assay has the potential to obtain sufficient power for individual identification and paternity test in global populations.
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Al-Snan, Noora R., Sabah Shabbir, Sahar S. Baksh, et al. "Population genetics of 30 insertion/deletion polymorphisms in the Bahraini population." Scientific Reports 11, no. 1 (2021). http://dx.doi.org/10.1038/s41598-021-86386-w.
Full textAbstract:
AbstractThis paper evaluates the forensic utility of 30 insertion-deletion polymorphism (indel) markers in a sample from the Bahraini population using the Qiagen Investigator DIPplex Kit. Allele frequencies and forensic stats of the 30 indels were investigated in 293 unrelated individuals from different governorates of the Kingdom of Bahrain. None of the markers showed significant deviation from Hardy Weinberg equilibrium except for HLD88 locus and no linkage disequilibrium were detected between all possible pair of the indel loci, assuming that these markers are independent and their allele frequencies can be used to calculate the match probabilities in the Bahraini population. The high power of discrimination (CPD = 0.9999999999998110) and the low combined match probability (CPM = 1.89 × 10−13) indicate that these markers are informative and can be successfully used for human identification in terms of forensics and paternity. Genetic distances and relatedness were displayed through multidimensional plotting and phylogenetic tree using various populations in the region. Our study showed that the Bahraini population was clustered with neighboring countries such as Kuwait and Emirates which indicates that these closely geographical regions share similar allele frequencies and are more genetically related than other reference population studied.
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PRANAB PATNAIK, SAMEER TRIVEDI, and DEEPAK SHAW. "ROLE OF COLOR DOPPLER ULTRASONOGRAPHIC PARAMETER AS A PREDICTOR OF SPERMATOGENESIS AND INFERTILITY." Asian Journal of Pharmaceutical and Clinical Research, July 7, 2024, 41–43. http://dx.doi.org/10.22159/ajpcr.2024v17i7.51109.
Full textAbstract:
Objective: Androgens target the testicular arteries, which may be aberrant in men who are infertile. One of the fastest and most accurate ways to measure testicular blood flow is by color Doppler ultrasonography (CDUS), which combines anatomical and velocity data. The goal of this research is to determine whether testicular artery end-diastolic velocity (EDV), peak systolic velocity (PSV), and resistive index (RI) can be used to differentiate between various types of dyspermia. Methods: This was a prospective observational study. In total, 90 patients were enrolled in the study which includes 27 patients with nonobstructive azoospermia (NOA), 19 patients with oligospermia (OL), 24 with obstructive azoospermia (OA), and 20 in the control group having normal sperm count and recent paternity. We compared variables such as EDV, PSV, RI, bilateral testicular volume, testosterone, and follicle-stimulating hormone among different dyspermic groups with the control group. Results: The mean age of the study participants was 31.5 years. PSV and RI in the NOA and OL groups were significantly lower compared to the control groups while the OA group was comparable with the control group. With respect to EDV, we observed a significantly lower value only in the NOA group compared to the control group. Significantly lower mean testicular volume and higher follicle-stimulating hormone levels were observed in the NOA group. Conclusion: Investigating male infertility can be challenging, but CDUS might be very helpful. When used routinely in clinical settings, the RI and PSV can be trustworthy markers for identifying infertility or dyspermic males, especially distinguishing between obstructive and unobstructive azoospermia.