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Journal articles on the topic 'Single nucleotide polymorphism (SNP)'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Hommais, Florence, Sabrina Pereira, Cécile Acquaviva, Patricia Escobar-Páramo, and Erick Denamur. "Single-Nucleotide Polymorphism Phylotyping of Escherichia coli." Applied and Environmental Microbiology 71, no. 8 (2005): 4784–92. http://dx.doi.org/10.1128/aem.71.8.4784-4792.2005.

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ABSTRACT We describe a rapid and easily automated phylogenetic grouping technique based on analysis of bacterial genome single-nucleotide polymorphisms (SNPs). We selected 13 SNPs derived from a complete sequence analysis of 11 essential genes previously used for multilocus sequence typing (MLST) of 30 Escherichia coli strains representing the genetic diversity of the species. The 13 SNPs were localized in five genes, trpA, trpB, putP, icdA, and polB, and were selected to allow recovery of the main phylogenetic groups (groups A, B1, E, D, and B2) and subgroups of the species. In the first step

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Peterson, S. W., I. Martin, W. Demczuk, et al. "Molecular Assay for Detection of Ciprofloxacin Resistance in Neisseria gonorrhoeae Isolates from Cultures and Clinical Nucleic Acid Amplification Test Specimens." Journal of Clinical Microbiology 53, no. 11 (2015): 3606–8. http://dx.doi.org/10.1128/jcm.01632-15.

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We developed a real-time PCR assay to detect single nucleotide polymorphisms associated with ciprofloxacin resistance in specimens submitted for nucleic acid amplification testing (NAAT). All three single nucleotide polymorphism (SNP) targets produced high sensitivity and specificity values. The presence of ≥2 SNPs was sufficient to predict ciprofloxacin resistance in an organism.

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3

Ravel, Catherine, Sébastien Praud, Alain Murigneux, et al. "Single-nucleotide polymorphism frequency in a set of selected lines of bread wheat (Triticum aestivum L.)." Genome 49, no. 9 (2006): 1131–39. http://dx.doi.org/10.1139/g06-067.

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Information on single-nucleotide polymorphisms (SNPs) in hexaploid bread wheat is still scarce. The goal of this study was to detect SNPs in wheat and examine their frequency. Twenty-six bread wheat lines from different origins worldwide were used. Specific PCR-products were obtained from 21 genes and directly sequenced. SNPs were discovered from the alignment of these sequences. The overall sequence polymorphism observed in this sample appears to be low; 64 single-base polymorphisms were detected in ~21.5 kb (i.e., 1 SNP every 335 bp). The level of polymorphism is highly variable among the di

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Feligini, Maria, Slavica Vlaco, Vlatka Cubric Curik, Pietro Parma, GianFranco Greppi та Giuseppe Enne. "A single nucleotide polymorphism in the sheep κ-casein coding region". Journal of Dairy Research 72, № 3 (2005): 317–21. http://dx.doi.org/10.1017/s0022029905000932.

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Genetic polymorphisms in CSN3 gene in Pag (Croatia), Sarda (Italy) and Pramenka (Serbia) sheep breeds were investigated. A single nucleotide polymorphism (SNP) was localized by sequence analysis (sequence submitted to GenBank under accession AY237637) relying on an original primer pair. Primers for sequencing (κ-casF and κ-casR) were designed on the available CSN3 sequences to amplify the genomic region encoding the major part of the mature protein (exon 4). An SNP was detected at position 237 of the sheep κ-casein mRNA (reference sequence: GenBank X51822), where a thymine was substituted for

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Taillon-Miller, Patricia, Ellen E. Piernot, and Pui-Yan Kwok. "Efficient Approach to Unique Single-Nucleotide Polymorphism Discovery." Genome Research 9, no. 5 (1999): 499–505. http://dx.doi.org/10.1101/gr.9.5.499.

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Single-nucleotide polymorphisms (SNPs) are the most frequently found DNA sequence variations in the human genome. It has been argued that a dense set of SNP markers can be used to identify genetic factors associated with complex disease traits. Because all high-throughput genotyping methods require precise sequence knowledge of the SNPs, any SNP discovery approach must involve both the determination of DNA sequence and allele frequencies. Furthermore, high-throughput genotyping also requires a genomic DNA amplification step, making it necessary to develop sequence-tagged sites (STSs) that ampl

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Abbas, Ahmed Abdul-Hassan, Zainab J. Fadhil, and Shatha Hussein Ali. "Tumor Necrosis Factor Alpha-863 C/A Single Nucleotide Polymorphisms and Nephrotic Syndrome." International Journal of Drug Delivery Technology 10, no. 03 (2020): 319–22. http://dx.doi.org/10.25258/ijddt.10.3.1.

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Introduction: Cytokines act as a mediator of inflammation in childhood nephrotic syndrome. Polymorphisms of cytokines genes may influence susceptibility to nephrotic syndrome (NS), as well as, patients’ steroid responses. Objective: To study the association of tumor necrosis factor-alpha single nucleotide polymorphisms (TNF-α SNP) (-863 C/A) with the development of NS in addition to access to their effects on serum level of TNF and the response to steroid therapy. Patients and Methods: This study included 60 patients (19 female and 41 male) with nephrotic syndrome; their ages ranged from 2 to

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7

Purwantini, Dattadewi, and Ismoyowati Ismoyowati. "Genetic Characteristic of Indonesian Local Ducks Based on Single Nucleotide Polymorphism (SNP) Analysis in D-loop Region Mitochondria DNA." ANIMAL PRODUCTION 16, no. 3 (2015): 146. http://dx.doi.org/10.20884/1.jap.2014.16.3.460.

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Abstract. The aim of the study was to know the genetic characteristic and polymorphysm of Indonesian local ducks including Magelang, Tegal, Mojosari, Bali and Alabio duck based on Single Nucleotide Polymorphism (SNP) analysis in D-loop region mtDNA. The long term aim was to set the spesific genetic marker based on SNP D-loop region mtDNA which could differentiate local ducks in Indonesia. In the future, it could be used as selection tool for local duck conservation, and refinement strategy as well as the improvement of genetic quality by utilizing the available native duck germplasm. There wer

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Forche, Anja, P. T. Magee, B. B. Magee, and Georgiana May. "Genome-Wide Single-Nucleotide Polymorphism Map for Candida albicans." Eukaryotic Cell 3, no. 3 (2004): 705–14. http://dx.doi.org/10.1128/ec.3.3.705-714.2004.

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ABSTRACT Single-nucleotide polymorphisms (SNPs) are essential tools for studying a variety of organismal properties and processes, such as recombination, chromosomal dynamics, and genome rearrangement. This paper describes the development of a genome-wide SNP map for Candida albicans to study mitotic recombination and chromosome loss. C. albicans is a diploid yeast which propagates primarily by clonal mitotic division. It is the leading fungal pathogen that causes infections in humans, ranging from mild superficial lesions in healthy individuals to severe, life-threatening diseases in patients

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9

Raha, Oindrila, B. N. Sarkar, P. Veerraju, Lucy Pramanik, and V. R. Rao. "Identification of novel single nucleotide polymorphism (SNP) in DPB1 gene in ethnic population from West Bengal." Genetika 43, no. 1 (2011): 205–8. http://dx.doi.org/10.2298/gensr1101205r.

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HLA-DP antigens present peptides to CD4+ T cells and play an important role in autoimmune diseases and parasitic infections. We have sequenced HLA-DPB1 exon-2 from the ethnic populations in West Bengal, India and report a novel single nucleotide polymorphism (SNP) - rs111221466. The rs111221466 SNP induced silent mutation from CGA (Arg) to TGA (Stop Codon) and showed a frequency of 83.24%. In conventional sense, the frequency of novel SNP is very high. We have sequenced HLA-DPB1 exon-2 from a Bengali Population in West Bengal, India. HLA-DP antigens present peptides to CD4+ T cells and play an

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Somers, Daryl J., Robert Kirkpatrick, Mariko Moniwa, and Andrew Walsh. "Mining single-nucleotide polymorphisms from hexaploid wheat ESTs." Genome 46, no. 3 (2003): 431–37. http://dx.doi.org/10.1139/g03-027.

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Single-nucleotide polymorphisms (SNPs) represent a new form of functional marker, particularly when they are derived from expressed sequence tags (ESTs). A bioinformatics strategy was developed to discover SNPs within a large wheat EST database and to demonstrate the utility of SNPs in genetic mapping and genetic diversity applications. A collection of >90 000 wheat ESTs was assembled into contiguous sequences (contigs), and 45 random contigs were then visually inspected to identify primer pairs capable of amplifying specific alleles. We estimate that homoeologue sequence variants occurred

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11

Edwards, Matthew, Sally Brescianini, Catherine Allgood, et al. "Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray." Journal of Paediatrics and Child Health 52, no. 1 (2015): 85–89. http://dx.doi.org/10.1111/jpc.12981.

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Gang-Ping, Hao, Wu Zhong-Yi, Chen Mao-Sheng, et al. "Single nucleotide polymorphisms of CBF4 locus region of Arabidopsis thaliana correspond to drought tolerance." Chinese Journal of Agricultural Biotechnology 1, no. 3 (2004): 181–90. http://dx.doi.org/10.1079/cjb200440.

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AbstractThe levels of drought tolerance and nucleotide polymorphism at the CBF4 locus were examined in a world-wide sample of 17 core accessions of Arabidopsis thaliana. The results showed that different accessions exhibited considerable differences in adaptation to drought stress. Compared with Columbia accession, the frequency of nucleotide polymorphism at the CBF4 locus of 25av, 203av and 244av accessions, including single nucleotide polymorphism (SNP) and insertion/deletion (Indel), was high, on average 1 SNP per 35.8 bp and 1 Indel per 143 bp. No significance in all regions of Tajima's D

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Falih Hashim, Mohammad, Fatima Saiwan Sabah, and Hamid Jaddoa Abas. "Investigation of the relationship between adiponectin gene polymorphism (ADIPOQ SNP rs-266729) and obesity Patients / Basra-Iraqi." Iraqi Journal of Pharmaceutical Sciences( P-ISSN 1683 - 3597 E-ISSN 2521 - 3512) 33, no. 3 (2024): 30–36. http://dx.doi.org/10.31351/vol33iss3pp30-36.

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Adiponectin is one of the most important hormones secreted by adipose tissue and plays a major role in the development of obesity. A variant-specific ADIPOQ single nucleotide polymorphism (SNP rs-266729) with a C to G missense mutation can be strongly associated with obesity. Therefore, this study aims to evaluate the association of single nucleotide polymorphisms (SNP rs-266729) of the ADIPOQ gene with obesity and some biochemical markers in these patients. The case-control study included 186 participants (106 patients and 80 healthy control). DNA was extracted from whole blood and then the R

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Nurulloh, Mohamad Ikhsan, Yustinus Ulung Anggraito, Hidayat Trimarsanto, Endah Peniati, and R. Susanti. "Simulasi Metode Statistik untuk Seleksi Single Nucleotide Polymorphism pada Populasi Plasmodium." Life Science 8, no. 1 (2019): 54–64. http://dx.doi.org/10.15294/lifesci.v8i1.29990.

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Plasmodium is a pathogen that causes malaria which has high genetic diversity and resistance to antimalarial drugs. Information on the population structure of Plasmodium can be used as molecular markers, one of which is Single Nucleotide Polymorphism (SNP). SNP markers are in large numbers and not entirely informative. The existing method has not been effective in producing informative SNPs, therefore it is necessary to develop an effective SNP selection method. The SNP selection method is developed using FST as the main filter (filter) and combines Linkage Disequilibrium (LD). The population

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15

Shehzad, Husnain, and Osheen Shehzad. "Detection of Single Nucleotide Polymorphism rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate." International Journal of Frontier Sciences 3, no. 1 (2019): 28–40. http://dx.doi.org/10.37978/tijfs.v3i1.46.

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Abstract: Background: Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate. Materials and Methods: Fifty patients with non-syndromic CL/P were included in present study alongwith fifty individuals with no psychiatric history as controls. In all of the these individuals, search for Single nucleotide polymorphism was carried out by designing sequence specif

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16

Wu, Kaimin, Feizhi Kong, Jingjing Zhang, et al. "Recent Progress in Single-Nucleotide Polymorphism Biosensors." Biosensors 13, no. 9 (2023): 864. http://dx.doi.org/10.3390/bios13090864.

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Single-nucleotide polymorphisms (SNPs), the most common form of genetic variation in the human genome, are the main cause of individual differences. Furthermore, such attractive genetic markers are emerging as important hallmarks in clinical diagnosis and treatment. A variety of destructive abnormalities, such as malignancy, cardiovascular disease, inherited metabolic disease, and autoimmune disease, are associated with single-nucleotide variants. Therefore, identification of SNPs is necessary for better understanding of the gene function and health of an individual. SNP detection with simple

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17

Singh, Shruti, Kiran Singh, and Manisha Sachan. "Association study of functional polymorphisms of DNMT3A and DNMT3B genes with breast carcinoma in north Indian population." South Asian Journal of Experimental Biology 5, no. 4 (2015): 121–26. http://dx.doi.org/10.38150/sajeb.5(4).p121-126.

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DNMT3A and DNMT3B are de novo methyltransferases which are responsi-ble for de novo methylation patterns of the unmethylated DNA. Two Single nucleotide polymorphisms (SNPs) in these genes i.e. -448A>G in DNMT3A and C46359T in DNMT3B, contribute a lot to the genetic susceptibility to breast cancer. In the present study, we analyzed the genotype frequencies of -448A>G polymorphism of DNMT3A and C46359T polymorphism of DNMT3B in breast cancer patients and healthy control subjects to explore the associa-tion of these single nucleotide polymorphisms with susceptibility to develop breast carci

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18

Manzoor, Hira, Naeem Aslam, Muhammad Tariq Pervez, Syed Shah Muhammad, and Ayesha Mubashra. "Evaluating Accuracy of Pathogenicity Prediction Methods for Single Nucleotide Polymorphisms." VFAST Transactions on Software Engineering 11, no. 2 (2023): 215–26. http://dx.doi.org/10.21015/vtse.v11i2.1568.

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Pathogenicity of single nucleotide polymorphism is the potential ability to produce disease. Testing each of the SNPs separately can lead to an erroneous measurement of the effect of the SNPs on the disease risk. In this research analysis of seven most popular tools for predicting the deleteriousness of single nucleotide polymorphisms namely SIFT, SNPs&GO, I Mutant, MUPro, Fathmn, PANTHER, and PhD-SNP was conducted. The ClinVar database was used to retrieve the pathogenic and benign SNPs, and the UniProt database to get protein sequences respectively. The SIFT, PhD-SNP, and SNP&Go outp

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19

Denysiuk, K. V., T. M. Satarova, V. Yu Cherchel, B. V. Dziubetskyi, P. Soudek, and M. O. Kruhlova. "Analysis of DNA single-nucleotide polymorphism in maize inbreds with different degrees of sensitivity to head smut (Sporisorium reilianum)." Agricultural Science and Practice 12, no. 1 (2025): 63–72. https://doi.org/10.15407/agrisp12.01.063.

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Aim. Single-nucleotide polymorphism analysis of maize inbreds with different rate of sensitivity to the head smut caused by Sporisorium reilianum, assessment of genetic relationships between them, and search for statistically significant associations between SNP markers and phenotypic manifestation of pathogen resistance. Methods. The single-nucleotide polymorphism analysis using BDI-III panel with 384 SNP markers, statistical methods. Results. The SNP analysis of seven maize inbreds with different sensitivity to S. reilianum infection was carried out. The key indicators of single-nucleotide p

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20

Bandyopadhyay, S., A. K. Bera, S. Sikdar, et al. "Intra-species variability in ITS-1 sequences of Haemonchus contortus isolated from goats in West Bengal, India." Journal of Helminthology 85, no. 2 (2010): 204–9. http://dx.doi.org/10.1017/s0022149x10000465.

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AbstractThis study evaluated the existence of different genotypes of Haemonchus contortus prevailing among goats in West Bengal, India. These parasites were isolated from the abomasum of goat intestine and the molecular characterization was performed by comparing variation of nucleotide sequences of the internal transcribed spacer 1 (ITS-1) gene region. Single-strand conformation polymorphism (SSCP) analysis of ITS-1 amplified product showed the presence of three distinct conformations both in male and female parasites. The sequence analysis of conformations showed two single nucleotide polymo

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Protas, Valeria, Gayane Pavlovna Pogossyan, Constantin Grigoryevich Li, and Michael Petrovich Danilenko. "Frequency of rs2228570 single nucleotide polymorphism of Vitamin-D Receptor (VDR) gene among the Kazakh ethnic group." Bulletin of the Karaganda University. “Biology, medicine, geography Series” 109, no. 1 (2023): 117–22. http://dx.doi.org/10.31489/2023bmg1/117-122.

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The article presents the results of the study of vitamin D receptor (VDR) gene rs2228570 single nucleotide polymorphism (SNP) genotypes and individual alleles frequency among the Kazakh ethnic group representatives living in the Karaganda region. This SNP was determined by real-time polymerase chain reaction using TaqMan technology. The study relevance is due to the fact that genetic variations in rs2228570 affect the synthesis of the VDR protein and its activity as a transcription factor that regulates the expression of other genes. This mechanism determines the association of individual rs22

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Lee, Keum-Ju, Hye-Mi So, Byoung-Kye Kim, et al. "Single Nucleotide Polymorphism Detection Using Au-Decorated Single-Walled Carbon Nanotube Field Effect Transistors." Journal of Nanomaterials 2011 (2011): 1–8. http://dx.doi.org/10.1155/2011/105138.

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We demonstrate that Au-cluster-decorated single-walled carbon nanotubes (SWNTs) may be used to discriminate single nucleotide polymorphism (SNP). Nanoscale Au clusters were formed on the side walls of carbon nanotubes in a transistor geometry using electrochemical deposition. The effect of Au cluster decoration appeared as hole doping when electrical transport characteristics were examined. Thiolated single-stranded probe peptide nucleic acid (PNA) was successfully immobilized on Au clusters decorating single-walled carbon nanotube field-effect transistors (SWNT-FETs), resulting in a conductan

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23

Kim, Byung Ki, Youn-Hwa Byun, Jea Jung Ha, et al. "Identification of SNP(Single Nucleotide Polymorphism) from MC1R, MITF and TYRP1 associated with Feather Color in Chicken." Korean Journal of Poultry Science 41, no. 1 (2014): 29–37. http://dx.doi.org/10.5536/kjps.2014.41.1.29.

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Jakubczak, Andrzej, Magdalena Gryzińska, Beata Horecka, Kornel Kasperek, Katarzyna Dziadosz, and Grażyna Jeżewska-Witkowska. "Genetic Differentiation of Common Fox Vulpes Vulpes (Linnaeus, 1758) on the Basis of the Insulin-Like Growth Factor 1 (Igf1), Myosin-Xv (Myo15a) and Paired Box Homeotic 3 (Pax3) Genes Fragments Polymorphism." Annals of Animal Science 14, no. 4 (2014): 807–19. http://dx.doi.org/10.2478/aoas-2014-0052.

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Abstract Single-nucleotide polymorphism (SNP) was analysed for selected fragments of three genes - insulin-like growth factor 1 (IGF1), myosin-XV (MYO15A) and paired box homeotic gene 3 (PAX3) - in farm and wild red foxes from two continents. The study was undertaken in order to verify whether the SNP characteristics of these genes enable farm-bred foxes to be distinguished from free-living foxes. The greatest number of changes were detected in the IGF1 gene. For each of the genes investigated specific SNP profiles characteristic only for farm foxes and only for wild foxes were noted. At the s

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Lin, C. W., L. Y. Wei, Y. Y. Chang, et al. "Effects of polymorphisms in the endothelin receptor B subtype 2 gene on plumage colour in mule ducks." South African Journal of Animal Science 50, no. 2 (2020): 310–17. http://dx.doi.org/10.4314/sajas.v50i2.14.

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The aim of the present study was to investigate the effect of a single nucleotide polymorphism (SNP) of the endothelin receptor B subtype 2 (EDNRB2) gene on plumage coloration in mule ducks. Test mating (white Tsaiya × white Muscovy ducks) in combination with polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) was performed to investigate the effect of non synonymous SNPs in two maternal lines (a conservation and a selection population) on plumage coloration in mule ducks. One non synonymous SNP (c.995G>A) was identified in white Muscovy ducks and white Tsaiya duck

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Shehzad, Husnain, and Osheen Sajjad. "Detection of Single Nucleotide Polymorphism rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate." International Journal of Frontier Sciences 3, no. 1 (2019): 28–40. https://doi.org/10.5281/zenodo.2543827.

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<strong>Abstract:</strong> <strong>Background:</strong> Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of <em>IRF6</em> Gene in Patient with Cleft Lip and Palate. <strong>Materials and Methods: </strong>Fifty patients with non-syndromic CL/P were included in present study alongwith fifty individuals with no psychiatric history as controls. In all of the these individuals, search for Single nucleotide polymorph

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27

Xu, Qian, Soe Kyaw Tin, Sivalingam Suppiah Paramalingam, Julian Thumboo, Dow-Rhoon Koh, and Kok-Yong Fong. "Interleukin-18 Promoter Gene Polymorphisms in Chinese Patients With Systemic Lupus Erythematosus: Association With CC Genotype at Position –607." Annals of the Academy of Medicine, Singapore 36, no. 2 (2007): 91–95. http://dx.doi.org/10.47102/annals-acadmedsg.v36n2p91.

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Introduction: Interleukin-18 (IL-18) is a Th1 cytokine, which is postulated to play a role in systemic lupus erythematosus (SLE). Two single nucleotide polymorphisms (SNPs) in the IL-18 promoter gene region were found to influence the quantitative expression of the IL-18 protein. The aim of this study was to determine whether IL-18 promoter gene polymorphisms are associated with SLE. Materials and Methods: One hundred and thirteen Chinese SLE patients and 218 Chinese healthy individuals were recruited. Genomic DNA was extracted from peripheral venous blood. Sequence-specific primer PCR and res

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Andrew, Marion, and Linda M. Kohn. "Single Nucleotide Polymorphism-Based Diagnostic System for Crop-Associated Sclerotinia Species." Applied and Environmental Microbiology 75, no. 17 (2009): 5600–5606. http://dx.doi.org/10.1128/aem.02761-08.

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ABSTRACT A molecular diagnostic system using single nucleotide polymorphisms (SNPs) was developed to identify four Sclerotinia species: S. sclerotiorum (Lib.) de Bary, S. minor Jagger, S. trifoliorum Erikss., and the undescribed species Sclerotinia species 1. DNAs of samples are hybridized with each of five 15-bp oligonucleotide probes containing an SNP site midsequence unique to each species. For additional verification, hybridizations were performed using diagnostic single nucleotide substitutions at a 17-bp sequence of the calmodulin locus. The accuracy of these procedures was compared to t

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Ab Razak, Shahril, Nor Helwa Ezzah Nor Azman, Rahiniza Kamaruzaman, et al. "Genetic diversity of released Malaysian rice varieties based on single nucleotide polymorphism markers." Czech Journal of Genetics and Plant Breeding 56, No. 2 (2020): 62–70. http://dx.doi.org/10.17221/58/2019-cjgpb.

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Understanding genetic diversity is a main key for crop improvement and genetic resource management. In this study, we aim to evaluate the genetic diversity of the released Malaysian rice varieties using single nucleotide polymorphism (SNP) markers. A total of 46 released Malaysian rice varieties were genotyped using 1536 SNP markers to evaluate their diversity. Out of 1536 SNPs, only 932 SNPs (60.7%) represented high quality alleles, whereas the remainder either failed to amplify or had low call rates across the samples. Analysis of the 932 SNPs revealed that a total of 16 SNPs were monomorphi

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Katagiri, Seiichiro, Tetsuzo Tauchi, Tomohiro Umezu, et al. "High Frequencies Of Switching To 2nd TKIs and Failure To Maintain Standard Imatinib Dose In Japanese CML Patients With BIM Genetic Variants." Blood 122, no. 21 (2013): 4021. http://dx.doi.org/10.1182/blood.v122.21.4021.4021.

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Abstract Recently, it has been demonstrated that the proapoptotic protein BIM showed a deletion polymorphism at exon 3 in eastern Asian population, and some CML patients with the BIM deletion polymorphism are resistant to imatinib treatment (Ng et al. Nature Medicine, 2012). More recently, a BIM single nucleotide polymorphism (SNP) at exon 8 (c465C>T) has also been found in French CML patients and this SNP is associated with not only imatinib resistance but also the presence of BCR-ABL mutations (Mahon et al. ASH abstract, 2012). We aimed to investigate a possible association between such g

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Fahrenkrug, S. C., B. A. Freking, T. P. L. Smith, G. A. Rohrer, and J. W. Keele. "Single nucleotide polymorphism (SNP) discovery in porcine expressed genes." Animal Genetics 33, no. 3 (2002): 186–95. http://dx.doi.org/10.1046/j.1365-2052.2002.00846.x.

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Swett, Rebecca J., Angela Elias, Jeffrey A. Miller, Gregory E. Dyson, and G. Andrés Cisneros. "Hypothesis driven single nucleotide polymorphism search (HyDn-SNP-S)." DNA Repair 12, no. 9 (2013): 733–40. http://dx.doi.org/10.1016/j.dnarep.2013.06.001.

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Choi, Yong-Sung, Kyung-Sup Lee, and Dae-Hee Park. "Single nucleotide polymorphism (SNP) detection using microelectrode biochip array." Journal of Micromechanics and Microengineering 15, no. 10 (2005): 1938–46. http://dx.doi.org/10.1088/0960-1317/15/10/021.

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OSMAN, MOHAMED M. M., SHAABAN A. HEMEDA, ABEER A. I. HASSANIN, and WALAA A. HUSSEINY. "Polymorphism of Prolactin Gene and Its Association with Egg Production Trait in Four Commercial Chicken Lines." Journal of the Hellenic Veterinary Medical Society 68, no. 3 (2018): 391. http://dx.doi.org/10.12681/jhvms.15502.

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Broodiness is a behavioral trait observed in most common breeds of domestic fowl and due to its fundamental role in avian reproduction, it has been of great interest to poultry scientists, breeders and producers of hatching eggs. Prolactin gene (PRL) is generally accepted as crucial to the onset and maintenance of broodiness in birds and thus plays a crucial role in egg production. Therefore, the present study aimed to screen the Single Nucleotides Polymorphisms (SNPs) of prolactin gene in four commercial chicken lines namely Hubbard F15, Lohmann, Cobb500, and Avian48 using PCR and direct sequ

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Chauhan, Alex, Nilesh Pandey, and Neeraj Jain. "A review of methods for detecting single-nucleotide polymorphisms in the Toll-like receptor gene family." Biomarkers in Medicine 15, no. 13 (2021): 1187–98. http://dx.doi.org/10.2217/bmm-2021-0077.

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The Toll-like receptors play an essential role in immunity through targeting the pathogen-associated molecular patterns. Nucleotide variations in TLR genes, especially single-nucleotide polymorphisms, have been shown to alter host immune susceptibility to several infections and diseases. Since TLR genes’ polymorphisms can be a promising biomarker, ongoing investigations aim to develop, optimize and validate SNP detection methods. This review discusses various TLR SNP detection methods, either used extensively or occasionally, but having a vast potential in high-throughput settings. Methods suc

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Partakusuma, Lia Gardenia, Luhung Budiailmiawan, Budiman, et al. "The Single-Nucleotide Polymorphism (SNP) Validity to Detect Omicron Variants." Advances in Virology 2023 (September 7, 2023): 1–7. http://dx.doi.org/10.1155/2023/6618710.

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Introduction. Mutation of SARS-CoV-2 has generated several variants of concern (VOC) which spread promptly worldwide. These emerging variants affected global strategies to overcome COVID-19. Variants of SARS-CoV-2 are determined by the whole genome sequencing (WGS) assay, which is time-consuming, with limited availability (only in several laboratories). Hence, a faster and more accessible examination is needed. The single-nucleotide polymorphism (SNP) method is one of the options for genomic variation surveillance that can help provide an answer to this challenge. This study aims to determine

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Kamelia, Lia, and Sjarif Hidajat Effendi. "Single Nucleotide Polymorphism (SNP) IL-10 (RS 1800896) pada Infeksi Bakteri Gram negatif dan TLR-2 (RS 3804099) Infeksi Bakteri Gram positif Pada Sepsis Neonatorum." Sari Pediatri 17, no. 6 (2016): 423. http://dx.doi.org/10.14238/sp17.6.2016.423-7.

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Latar belakang. Sepsis neonatorum merupakan masalah kesehatan dengan tingkat morbiditas dan mortalitas yang tinggi. Kulturdarah sebagai gold standar diagnostic hanya memberikan hasil positif sekitar 40%. Latar belakang genetik saat ini diakui berkontribusiterhadap respons imunologis inangTujuan. Menentukan hubungan SNP IL-10 (rs 1800896) dengan infeksi bakteri Gram negatif dan TLR-2 (rs 3804099)dengan infeksi bakteri Gram positif pada sepsis neonatorum.Metode. Penelitian rancangan cross sectional pada sepsis neonatorum. Subjek dengan hasil kultur darah positif dilakukan analisisgenetik single

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Zheng, Sichen, Yancui Chen, Biao Wu, et al. "Characterization of Eighty-Eight Single-Nucleotide Polymorphism Markers in the Manila Clam Ruditapes philippinarum Based on High-Resolution Melting (HRM) Analysis." Animals 14, no. 4 (2024): 542. http://dx.doi.org/10.3390/ani14040542.

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Single-nucleotide polymorphisms (SNPs) are the most commonly used DNA markers in population genetic studies. We used the Illumina HiSeq4000 platform to develop single-nucleotide polymorphism (SNP) markers for Manila clam Ruditapes philippinarum using restriction site-associated DNA sequencing (RAD-seq) genotyping. Eighty-eight SNP markers were successfully developed by using high-resolution melting (HRM) analysis, with a success rate of 44%. SNP markers were analyzed for genetic diversity in two clam populations. The observed heterozygosity per locus ranged from 0 to 0.9515, while the expected

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Yanishevskaya, M. A., E. A. Blinova, A. V. Korechenkova, and A. V. Akleyev. "Association between the rs1052133 polymorphism of the OGG1 gene and the risk of malignant neoplasms development in people chronically exposed to radiation." "Radiation and Risk" Bulletin of the National Radiation and Epidemiological Registry 32, no. 3 (2023): 97–108. http://dx.doi.org/10.21870/0131-3878-2023-32-3-97-108.

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Genetic predisposition without doubt is one of the risk factors of cancer initiation. It is known that single nucleotide polymorphisms (SNP) of genes that maintain the genome stability, including SNP of DNA repair, may contribute to the initiation of carcinogenesis. Single-nucleotide polymorphisms of genes that support genome stability, including SNP of DNA repair genes, can contribute to cancer initiation. Polymorphism of the excision repair gene OGG1 causes interest of leading scientific groups from various countries. It is assumed that there is relationship between the rs1052133 polymorphis

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Kamarudin, Nur Fatihah, and Zuraini Ali Shah. "Feature Extraction And Classification On Single Nucleotide Polymorphism." International Journal of Advanced Science Computing and Engineering 1, no. 2 (2019): 85–90. http://dx.doi.org/10.30630/ijasce.1.2.6.

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Malay in Peninsular Malaysia can be divided into eight sub-ethnics which are Malay Bugis, Malay, Malay Champa, Malay Jawa, Malay Kelantan, Malay Kedah, Malay Minang and Malay Pattani. Ancestry informative marker (AIM) can be used to represent the eight subethnic of Malay population in Peninsular Malaysia. In this research, single nucleotide polymorphism (SNP) datasets of eight sub-ethnics are analyses in order to obtain the AIM for Malays population in Peninsular Malaysia. However, the dataset may have outlier, missing data and redundancy that may impact the accuracy of the result. Pre-process

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Kamarudin, Nur Fatihah, Zuraini Ali Shah, Mohd Farhan Md Fudzee, and Shahreen Kasim. "Feature Extraction and Classification On Single Nucleotide Polymorphism." International Journal of Advanced Science Computing and Engineering 1, no. 2 (2019): 85–90. http://dx.doi.org/10.62527/ijasce.1.2.6.

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Malay in Peninsular Malaysia can be divided into eight sub-ethnics which are Malay Bugis, Malay, Malay Champa, Malay Jawa, Malay Kelantan, Malay Kedah, Malay Minang and Malay Pattani. Ancestry informative marker (AIM) can be used to represent the eight subethnic of Malay population in Peninsular Malaysia. In this research, single nucleotide polymorphism (SNP) datasets of eight sub-ethnics are analyses in order to obtain the AIM for Malays population in Peninsular Malaysia. However, the dataset may have outlier, missing data and redundancy that may impact the accuracy of the result. Pre-process

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Sahoo, S. S., O. K. Choudhari, J. Bhadra, and B. C. Kabi. "Association of BTNL2 gene single nucleotide polymorphism with knee osteoarthritis." RUDN Journal of Medicine 25, no. 2 (2021): 89–95. http://dx.doi.org/10.22363/2313-0245-2021-25-2-89-95.

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Relevance. Osteoarthritis (OA) is one of the chronic debilitating condition mostly seen in the aged population. The etiology behind the OA is multifactorial and the exact cause of the disease often remains uncertain. Apart from the conventional risk factors, there are the speculations of role of genetics playing a pivotal role in the causation of OA. The available literature showed BTNL2 gene polymorphism association with risk of Osteoarthritis whether the same relation is present in north Indian population needs to be elucidated. Objective. To find the association between single nucleotide po

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Mahesworo, Bharuno, Arif Budiarto, Alam Ahmad Hidayat, and Bens Pardamean. "Cancer Risk Score Prediction Based on a Single-Nucleotide Polymorphism Network." Healthcare Informatics Research 28, no. 3 (2022): 247–55. http://dx.doi.org/10.4258/hir.2022.28.3.247.

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Objectives: Genome-wide association studies (GWAS) are performed to study the associations between genetic variants with respect to certain phenotypic traits such as cancer. However, the method that is commonly used in GWAS assumes that certain traits are solely affected by a single mutation. We propose a network analysis method, in which we generate association networks of single-nucleotide polymorphisms (SNPs) that can differentiate case and control groups. We hypothesize that certain phenotypic traits are attributable to mutations in groups of associated SNPs. Methods: We propose a method b

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Ranade, Koustubh, Mau-Song Chang, Chih-Tai Ting, et al. "High-Throughput Genotyping with Single Nucleotide Polymorphisms." Genome Research 11, no. 7 (2001): 1262–68. http://dx.doi.org/10.1101/gr.157801.

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To make large-scale association studies a reality, automated high-throughput methods for genotyping with single-nucleotide polymorphisms (SNPs) are needed. We describe PCR conditions that permit the use of the TaqMan or 5′ nuclease allelic discrimination assay for typing large numbers of individuals with any SNP and computational methods that allow genotypes to be assigned automatically. To demonstrate the utility of these methods, we typed >1600 individuals for a G-to-T transversion that results in a glutamate-to-aspartate substitution at position 298 in the endothelial nitric oxide syntha

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Ibrahim, Sahar, Arwa M. Salih, Dina Hameed Haider, et al. "Single Nucleotide Polymorphism (SNP) Assays for Disaster Victim Identification (DVI)." Baghdad Journal of Biochemistry and Applied Biological Sciences 6, no. 3 (2025): 131–40. https://doi.org/10.47419/bjbabs.v6i3.371.

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Disaster victim identification (DVI) is crucial in the aftermath of mass casualty events, necessitating rapid and precise identification methods. Single-nucleotide polymorphisms (SNPs) have gained significant prominence in forensic genetics due to their abundance, stability, and ease of analysis. SNPs are highly valuable genetic markers for DVI, particularly because they are insensitive to DNA degradation and possess high annotation potential, making their underlying biological information invaluable for human identification in molecular forensics. Unlike traditional methods, SNP typing offers

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Ibrahim, Sahar, Arwa M. Salih, Dina Hameed Haider, et al. "Single Nucleotide Polymorphism (SNP) Assays for Disaster Victim Identification (DVI)." Baghdad Journal of Biochemistry and Applied Biological Sciences 6, no. 3 (2025): 131–40. https://doi.org/10.47419/bjbabs.v6i03.371.

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Disaster victim identification (DVI) is crucial in the aftermath of mass casualty events, necessitating rapid and precise identification methods. Single-nucleotide polymorphisms (SNPs) have gained significant prominence in forensic genetics due to their abundance, stability, and ease of analysis. SNPs are highly valuable genetic markers for DVI, particularly because they are insensitive to DNA degradation and possess high annotation potential, making their underlying biological information invaluable for human identification in molecular forensics. Unlike traditional methods, SNP typing offers

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Lan, X. Y., C. Y. Pan, H. Chen, et al. "An MspI PCR-RFLP detecting a single nucleotide polymorphism at alpha-lactalbumin gene in goat." Czech Journal of Animal Science 52, No. 5 (2008): 138–42. http://dx.doi.org/10.17221/2231-cjas.

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Alpha-lactalbumin (&alpha;-<i>LA</i>, <i>LALBA</i>) was strongly correlated with the nutritional value and the functional properties of whey and whey products. However, there are not many studies of goat <i>LALBA</i> gene and its polymorphisms in literary sources. In this paper, on the basis of PCR-SSCP and DNA sequencing, one M63868:g.1897T>C mutation in exon 3 at <i>LALBA</i> locus identified a Single Nucleotide Polymorphism (SNP): p.L100P of the <i>LALBA</i> protein, which could be detected by <i>Msp</i>I endonuc

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Liu, F. W., S. T. Ding, E. C. Lin, Y. W. Lu, and J. S. R. Jang. "Automated melting curve analysis in droplet microfluidics for single nucleotide polymorphisms (SNP) genotyping." RSC Advances 7, no. 8 (2017): 4646–55. http://dx.doi.org/10.1039/c6ra26484k.

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Ashgi, Findy, and Adi Pancoro. "Analisis Single Nucleotide Polymorphism Gen Faktor Transkripsi MYB dalam Biosintesis Antosianin Kulit Buah Mangga (Analysis of Single Nucleotide Polymorphism Gene Transcription Factor MYB in Mango Skin Anthocyanin Biosynthesis)." Jurnal Hortikultura 31, no. 1 (2021): 1. http://dx.doi.org/10.21082/jhort.v31n1.2021.p1-10.

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<p>Perkembangan pasar bebas berdampak terhadap selera produk-produk pertanian, seperti warna buah mangga. Antosianin merupakan senyawa yang bertanggung jawab dalam menginduksi warna pada buah. Senyawa ini diregulasi oleh gen faktor transkripsi MYB. Mutasi Single Nucleotide Polymorphism (SNP) daerah ekson gen MYB dapat mengubah asam amino yang memengaruhi aktivitas enzim yang mengakibatkan munculnya variasi fenotipe warna buah di antara individu-individu dalam spesies yang sama. Penelitian ini bertujuan menemukan SNP pada gen MYB dari kulit buah mangga varietas Arum Manis, Gedong Gincu, M

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Nowacka-Zawisza, Maria, Agata Raszkiewicz, Tomasz Kwasiborski, et al. "RAD51 and XRCC3 Polymorphisms Are Associated with Increased Risk of Prostate Cancer." Journal of Oncology 2019 (May 2, 2019): 1–8. http://dx.doi.org/10.1155/2019/2976373.

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Genetic polymorphisms in DNA repair genes may affect DNA repair efficiency and may contribute to the risk of developing cancer. The aim of our study was to investigate single nucleotide polymorphisms (SNPs) in RAD51 (rs2619679, rs2928140, and rs5030789) and XRCC3 (rs1799796) involved in DNA double-strand break repair and their relationship to prostate cancer. The study group included 99 men diagnosed with prostate cancer and 205 cancer-free controls. SNP genotyping was performed using the PCR-RFLP method. A significant association was detected between RAD51 rs5030789 polymorphism and XRCC3 rs1

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