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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
发表期刊LEGAL MEDICINE
ISSN1344-6223
文章类型Article
卷号13期号:4页码:215-217
产权排序3
摘要Two 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.
关键词OCA2 Pigmentation Population-specific Population study Single nucleotide polymorphism (SNP)
学科领域System Biology/biological Information Science
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收录类别SCI
语种英语
项目资助者Japan Society for the Promotion of Science [20590678]
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
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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
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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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