与色素沉着不足相关的OCA2∗481Thr和OCA2∗615Arg在其他几个群体中的分布情况。
Distribution of OCA2∗481Thr and OCA2∗615Arg, associated with hypopigmentation, in several additional populations.
作者信息
Yuasa Isao, Harihara Shinji, Jin Feng, Nishimukai Hiroaki, Fujihara Junko, Fukumori Yasuo, Takeshita Haruo, Umetsu Kazuo, Saitou Naruya
机构信息
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.
出版信息
Leg Med (Tokyo). 2011 Jul;13(4):215-7. doi: 10.1016/j.legalmed.2011.04.003. Epub 2011 May 11.
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.
眼皮肤白化病II型（OCA2）基因中的两个突变体OCA2∗481Thr（c.1441G>A，p.Ala481Thr）和OCA2∗615Arg（c.1844A>G，p.His615Arg）与东亚人的色素沉着不足有关。在此，对这两个等位基因进行了研究，以评估其在五个不同人群中的频率。此外，还在七个群体中调查了OCA2∗615Arg的等位基因频率。在所调查的总共24个全球群体中，黑河的鄂伦春族OCA2∗481Thr频率最高（0.519），在26个群体中，长沙的汉族OCA2∗615Arg频率最高（0.673）。本研究证实，这两个东亚特有的等位基因是东亚北部和中南部人群的特征。
Zotero 插件