학술논문
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
Document Type
Academic Journal
Author
Source
American Journal of Human Genetics. Feb, 2007, Vol. 80 Issue 2, p241, 12 p.
Subject
Language
English
ISSN
0002-9297
Abstract
Genotyping studies are conducted to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white populations. The studies demonstrate that variation in the OCA2 gene 5' region explains most human eye-color variation and polymorphism of gene-regulatory regions is one of the major contributors to phenotypic variation between and within human populations.