HERC2 (rs12913832) and OCA2 (rs1800407) genes polymorphisms in relation to iris color variation in Belarusian population
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چکیده
منابع مشابه
Association of rs12913832 in the HERC2 Gene Affecting Human Iris Color Variation
Introduction: Human eye colour as a physical trait is based on the developmental biology and genetic determinants of the structure known as the iris, which is part of the uveal tract of the eye. Prediction of human visible characteristics (EVCs) by genotyping informative SNPs in DNA as biological witness opens up a new avenue in the forensic genetic. Variation of iris color rely on the amounts...
متن کاملA single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
We have previously demonstrated that haplotypes of three single nucleotide polymorphisms (SNPs) within the first intron of the OCA2 gene are extremely strongly associated with variation in human eye color. In the present work, we describe additional fine association mapping of eye color SNPs in the intergenic region upstream of OCA2 and within the neighboring HERC2 (hect domain and RLD2) gene. ...
متن کاملImportance of nonsynonymous OCA2 variants in human eye color prediction
BACKGROUND The color of the eyes is one of the most prominent phenotypes in humans and it is often used to describe the appearance of an individual. The intensity of pigmentation in the iris is strongly associated with one single-nucleotide polymorphism (SNP), rs12913832:A>G that is located in the promotor region of OCA2 (OMIM #611409). Nevertheless, many eye colors cannot be explained by only ...
متن کاملHuman eye colour and HERC2, OCA2 and MATP.
Prediction of human eye colour by forensic genetic methods is of great value in certain crime investigations. Strong associations between blue/brown eye colour and the SNP loci rs1129038 and rs12913832 in the HERC2 gene were recently described. Weaker associations between eye colour and other genetic markers also exist. In 395 randomly selected Danes, we investigated the predictive values of va...
متن کاملA single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model
AIM To analyze two phenotype characteristics--eye and hair color--using single-nucleotide polymorphisms (SNPs) and evaluate their prediction accuracy in Slovenian population. METHODS Twelve SNPs (OCA2 - rs1667394, rs7170989, rs1800407, rs7495174; HERC2 - rs1129038, rs12913832; MC1R - rs1805005, rs1805008; TYR - rs1393350; SLC45A2 - rs16891982, rs26722; SLC24A5 - rs1426654) were used for the d...
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ژورنال
عنوان ژورنال: Forensic Science International: Genetics Supplement Series
سال: 2019
ISSN: 1875-1768
DOI: 10.1016/j.fsigss.2019.09.127