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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population

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Author(s):
Andrade, Edilene S. ; Fracasso, Nadia C. A. ; Strazza Junior, Paulo S. ; Simoes, Aguinaldo L. ; Mendes-Junior, Celso T.
Total Authors: 5
Document type: Journal article
Source: LEGAL MEDICINE; v. 24, p. 78-83, JAN 2017.
Web of Science Citations: 3
Abstract

Panels composed of Single Nucleotide Polymorphisms (SNPs) in genes related to pigmentation, when associated with different phenotypes, may assist in predicting the physical appearance of an individual, being very useful in forensic caseworks. We evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye, skin, hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. All the seven SNPs evaluated presented one allele associated with phenotypes from at least two pigmentation features and the alternative allele associated with the opposite phenotypes from the same trait. The genotypic associations followed the same pattern for all seven SNPs. Nine haplotypes were observed in our sample and eight were associated with at least two pigmentation traits. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin, eye and hair pigmentation in the Brazilian population. (C) 2016 Elsevier Ireland Ltd. All rights reserved. (AU)

FAPESP's process: 13/15447-0 - Next-generation sequencing of exonic and regulatory regions of ten genes involved on melanin biosynthesis in a brazilian population sample
Grantee:Celso Teixeira Mendes Junior
Support Opportunities: Regular Research Grants