Distribution of OCA2*481Thr and OCA2*615Arg, associated with hypopigmentation, in several additional populations

	*Distribution of OCA2481Thr and OCA2615Arg, associated with hypopigmentation, in several additional populations*
	Yuasa, Isao 1; Harihara, Shinji 2; Jin, Feng3 ; Nishimukai, Hiroaki 4; Fujihara, Junko 5; Fukumori, Yasuo 6; Takeshita, Haruo 5; Umetsu, Kazuo 7; Saitou, Naruya 8; Yuasa, I (reprint author), Tottori Univ, Fac Med, Div Legal Med, Yonago, Tottori 6838503, Japan.
心理所单位排序	3
摘要	Two mutants, OCA2481Thr (c.1441G > A, p.Ala481Thr) and OCA2615Arg (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 OCA2615Arg was investigated in seven populations. Among a total of 24 global populations investigated, Oroqens in Heihe showed the highest frequency for OCA2481Thr (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.
关键词	OCA2 Pigmentation Population-specific Population study Single nucleotide polymorphism (SNP)
学科领域	System Biology/biological Information Science
	2011-07-01
语种	英语
发表期刊	LEGAL MEDICINE
ISSN	1344-6223
卷号	13 期号:4 页码:215-217
期刊论文类型	Article
URL	查看原文
收录类别	SCI
项目简介	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记录号	WOS:000291776000012
资助机构	Japan Society for the Promotion of Science [20590678]
引用统计	被引频次：17[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	http://ir.psych.ac.cn/handle/311026/11471
专题	中国科学院心理健康重点实验室
通讯作者	Yuasa, I (reprint author), Tottori Univ, Fac Med, Div Legal Med, Yonago, Tottori 6838503, Japan.
作者单位	1.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
推荐引用方式 GB/T 7714	Yuasa, Isao,Harihara, Shinji,Jin, Feng,et al. Distribution of OCA2481Thr and OCA2615Arg, 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 OCA2481Thr and OCA2615Arg, associated with hypopigmentation, in several additional populations.LEGAL MEDICINE,13(4),215-217.
MLA	Yuasa, Isao,et al."Distribution of OCA2481Thr and OCA2615Arg, associated with hypopigmentation, in several additional populations".LEGAL MEDICINE 13.4(2011):215-217.

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