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Distribution of OCA2*481Thr and OCA2*615Arg, associated with hypopigmentation, in several additional populations
Yuasa, Isao1; Harihara, Shinji2; Jin, Feng3; Nishimukai, Hiroaki4; Fujihara, Junko5; Fukumori, Yasuo6; Takeshita, Haruo5; Umetsu, Kazuo7; Saitou, Naruya8; Yuasa, I (reprint author), Tottori Univ, Fac Med, Div Legal Med, Yonago, Tottori 6838503, Japan.
2011-07-01
Source PublicationLEGAL MEDICINE
ISSN1344-6223
SubtypeArticle
Volume13Issue:4Pages:215-217
Contribution Rank3
AbstractTwo mutants, OCA2*481Thr (c.1441G > A, p.Ala481Thr) and OCA2*615Arg (c.1844A > G, p.His615Arg), in the OCA2 (oculocutaneous albinism type II) gene are associated with hypopigmentation in East Asians. Here, these two alleles were studied to assess the frequencies in five different populations. In addition, the allele frequency of OCA2*615Arg was investigated in seven populations. Among a total of 24 global populations investigated, Oroqens in Heihe showed the highest frequency for OCA2*481Thr (0.519), and among 26 populations, Han Chinese in Changsha showed the highest frequency for OCA2*615Arg (0.673). This study confirmed that these two East Asian-specific alleles are characteristic of northern and central-southern East Asian populations. (C) 2011 Elsevier Ireland Ltd. All rights reserved.
KeywordOCA2 Pigmentation Population-specific Population study Single nucleotide polymorphism (SNP)
Subject AreaSystem Biology/biological Information Science
URL查看原文
Indexed BySCI
Language英语
Funding OrganizationJapan Society for the Promotion of Science [20590678]
Project Intro.This study was supported in part by a Grant-in-Aid for Scientific Research (20590678 to IY) from the Japan Society for the Promotion of Science.
WOS IDWOS:000291776000012
Citation statistics
Cited Times:12[WOS]   [WOS Record]     [Related Records in WOS]
Document Type期刊论文
Identifierhttp://ir.psych.ac.cn/handle/311026/11471
Collection中国科学院心理健康重点实验室
Corresponding AuthorYuasa, I (reprint author), Tottori Univ, Fac Med, Div Legal Med, Yonago, Tottori 6838503, Japan.
Affiliation1.Tottori Univ, Fac Med, Div Legal Med, Yonago, Tottori 6838503, Japan
2.Univ Tokyo, Grad Sch Sci, Dept Biol Sci, Tokyo 113, Japan
3.Chinese Acad Sci, Inst Psychol, Key Lab Mental Hlth, Beijing 100101, Peoples R China
4.Ehime Univ, Sch Med, Div Legal Med, Matsuyama, Ehime 790, Japan
5.Shimane Univ, Fac Med, Dept Legal Med, Izumo, Shimane, Japan
6.Osaka Red Cross Blood Ctr, Osaka, Japan
7.Yamagata Univ, Fac Med, Dept Forens Med, Yamagata 990, Japan
8.Natl Inst Genet, Div Populat Genet, Mishima, Shizuoka 411, Japan
Recommended Citation
GB/T 7714
Yuasa, Isao,Harihara, Shinji,Jin, Feng,et al. Distribution of OCA2*481Thr and OCA2*615Arg, associated with hypopigmentation, in several additional populations[J]. LEGAL MEDICINE,2011,13(4):215-217.
APA Yuasa, Isao.,Harihara, Shinji.,Jin, Feng.,Nishimukai, Hiroaki.,Fujihara, Junko.,...&Yuasa, I .(2011).Distribution of OCA2*481Thr and OCA2*615Arg, associated with hypopigmentation, in several additional populations.LEGAL MEDICINE,13(4),215-217.
MLA Yuasa, Isao,et al."Distribution of OCA2*481Thr and OCA2*615Arg, associated with hypopigmentation, in several additional populations".LEGAL MEDICINE 13.4(2011):215-217.
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