OCA2 481苏氨酸，一种色素沉着方面的功能减退等位基因，是东北亚人群的特征。
OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.
作者信息
Yuasa Isao, Umetsu Kazuo, Harihara Shinji, Miyoshi Aya, Saitou Naruya, Park Kyung Sook, Dashnyam Bumbein, Jin Feng, Lucotte Gérard, Chattopadhyay Prasanta K, Henke Lotte, Henke Jürgen
机构信息
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, 683-8503, Japan.
Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
出版信息
J Hum Genet. 2007;52(8):690-693. doi: 10.1007/s10038-007-0167-9. Epub 2007 Jun 14.
Asians as well as Europeans have light skin, for which no genes to date are known to be responsible. A mutation, Ala481Thr (c.G1559A), in the oculocutaneous albinism type II (OCA2) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the mutation was investigated in a total of 2,615 individuals in 20 populations from various areas. OCA2 481Thr prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north-south downward geographical gradient. These findings suggest that OCA2 481Thr arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations.
亚洲人和欧洲人都有浅色皮肤，迄今为止尚未发现与之相关的基因。II型眼皮肤白化病（OCA2）基因中的一个突变，即Ala481Thr（c.G1559A），在黑色素生成中具有约70%的野生型等位基因功能。在本研究中，调查了来自不同地区的20个群体中总共2615人的该突变分布情况。OCA2 481Thr几乎仅在亚洲东北部地区存在。该等位基因频率在蒙古的布里亚特人（Buryat）中最高（0.24），并呈现出从北到南的地理梯度下降趋势。这些发现表明，OCA2 481Thr起源于紫外线辐射较低的地区，随后传播到了邻近人群。
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