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首页> 外文期刊>Annals of Human Genetics >Diversification of the ADH1B Gene during Expansion of Modern Humans
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Diversification of the ADH1B Gene during Expansion of Modern Humans

机译：现代人类扩展过程中ADH1B基因的多样化

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摘要

A variant allele, ADH1B*48His, also known as ADH1B*2, at the human Alcohol Dehydrogenase 1B gene (ADH1B) is strongly associated with alcoholism in some populations and has an unusual geographic distribution. Strong evidence implies selection has increased the frequency of this allele in some East Asian populations but does not fully explain its geographic pattern. We have studied haplotypes of 10 single nucleotide polymorphisms (SNPs) and two short tandem repeat polymorphisms (STRPs) in the ADH1B region in 2,206 individuals from a worldwide set of populations. These SNPs and STRPs define nine common haplogroups most of which have distinct geographic patterns. The haplogroups H5 and H6, both with the derived ADH1B*48His allele, appear restricted to the Middle East and East Asia, respectively. The positively selected H7 is derived from H6 by a new regulatory region variant defining SNP rs3811801 restricted to East Asia. Age estimates of the haplogroups based on the STRPs also agree with the time of the migration events estimated by other studies. H7 is estimated to have expanded recently, around 2,800 years ago, and ancient DNA samples from North China confirm its presence about that time. The dating of the H7 expansion may help understand the selective force on the ADH1B gene.
机译：人类酒精脱氢酶1B基因（ADH1B）的变异等位基因ADH1B * 48His，也称为ADH1B * 2，在某些人群中与酒精中毒密切相关，并且具有异常的地理分布。有力的证据表明，选择增加了一些东亚人群中该等位基因的频率，但并未完全解释其地理格局。我们已经研究了ADH1B地区10个单核苷酸多态性（SNP）和两个短串联重复多态性（STRP）的单倍型，来自世界各地的2,206个人。这些SNP和STRP定义了9个常见的单倍群，其中大多数具有不同的地理模式。具有衍生的ADH1B * 48His等位基因的单倍群H5和H6分别局限于中东和东亚。阳性选择的H7源自H6，这是通过新的监管区域变体定义的SNP rs3811801限制在东亚。基于STRP的单倍群的年龄估计也与其他研究估计的迁移事件的时间一致。据估计，H7在最近的大约2800年前已经扩大了，华北地区的古代DNA样本证实了它的存在。 H7扩增的日期可能有助于了解对ADH1B基因的选择性作用力。

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