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首页> 外文期刊>Pigment cell research >Population Differences in the Frequency of the Agouti Signaling Protein g.8818A > G Polymorphism
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Population Differences in the Frequency of the Agouti Signaling Protein g.8818A > G Polymorphism

机译:Agouti信号蛋白g.8818A> G多态性频率上的群体差异

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The role of agouti signaling protein (ASIP) in human pigmentation pathways is not definitively understood although its murine homologue regulates, in part, pheomelanogenesis. We have reported an association of a polymorphism in the 3'-untranslated region of ASIP (g.8818A > G) with dark hair and eye color among a group of European-Americans (Am J Hum Genet 2002 March;70:770). Among 147 healthy control subjects, the frequency of the G-allele was 0.12. We hypothesized that this polymorphism would occur at different frequencies among different population groups. Using PCR-RFLP, we genotyped 25 East Asian, 86 African-American, and 207 West African individuals for the ASIP g.8818A > G polymorphism. The g.8818G-allele was present in the West African sample at a frequency of 0.80, in the African-American sample at a frequency of 0.62, and in the East Asian sample at 0.28. The difference in allele frequency among population groups was statistically significant (P < 0.0001). Although the effect of the g.8818A > G polymorphism upon ASIP function is unknown, the large difference in allele frequency between our West African and European-American sample populations lends support to the notion that this gene may be important in human pigmentation.
机译:尽管刺鼠信号蛋白(ASIP)的鼠类同源物部分调节着色细胞的生成,但尚未明确了解其在人类色素沉着途径中的作用。我们已经报道了在一组欧美人中,ASIP 3'非翻译区的多态性(g.8818A> G)与黑发和眼睛的颜色相关(Am J Hum Genet 2002 March; 70:770)。在147名健康对照受试者中,G等位基因的频率为0.12。我们假设这种多态性将在不同人群之间以不同的频率发生。使用PCR-RFLP,我们对ASIP g.8818A> G多态性的25个东亚人,86个非裔美国人和207个西非人进行了基因分型。 g.8818G等位基因在西非样本中的频率为0.80,在非裔美国人样本中的频率为0.62,在东亚样本中的频率为0.28。人群之间等位基因频率的差异具有统计学意义(P <0.0001)。尽管尚不清楚g.8818A> G多态性对ASIP功能的影响,但我们的西非和欧美样本人群之间的等位基因频率差异很大,这支持了该基因可能对人类色素沉着重要的观念。

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