The allele frequency of ALDH2*Glu504Lys and ADH1B*Arg47His for the Ryukyu islanders and their history of expansion among East Asians
The allele frequency of ALDH2*Glu504Lys and ADH1B*Arg47His for the Ryukyu islanders and their history of expansion among East Asians
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DOI：
10.1002/ajhb.22933
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发表时间：
2017-03-01
影响因子：
2.9
通讯作者：
Oota, Hiroki
中科院分区：
文献类型：
--
作者：
Koganebuchi, Kae;Haneji, Kuniaki;Oota, Hiroki
目的：ALDH 2基因的衍生等位基因的频率梯度在日本群岛的人们中是已知的，该等位基因导致饮酒的人缺乏酶和“面部潮红”。这一渐变群通常被解释为弥生时代来自亚洲大陆的移民的混合。以前的研究缺乏足够的数据，从周边地区的土著绳文人，这些数据的ADH 1B基因，参与了I类ADH基因簇，并包含另一种变异导致的功能changes.Methods：我们专注于西南部的人从琉球群岛（n = 218）和那些从北方九州（n = 21），其中弥生移民可能抵达。我们调查了Class I ADH和ALDH 2基因座以及中性遗传标记。结果：在琉球群岛，这两个基因座的祖先等位基因的频率总是高于日本大陆，而ADH 1B的频率低于衍生等位基因的频率。在ALDH2中未观察到单倍型阻断，但在I类ADH中观察到单倍型阻断。讨论：我们的数据表明，ALDH 2的衍生等位基因来自亚洲大陆的弥生移民到日本列岛。然而，ADH 1B的衍生等位基因不太可能与弥生移民有关。因此，我们推测ADHIB衍生等位基因在东亚的扩展可以追溯到末次冰期。
Objectives: A cline of frequencies of the derived allele of the ALDH2 gene, which causes a deficiency of an enzyme and " facial flushing" in humans who drink alcohol, has been known among the people of the Japanese archipelago. This cline is conventionally explained by admixture with immigrants from the Asian continent occurring during the Yayoi period. Previous studies lack sufficient data from the peripheral regions of the indigenous Jomon people, and those data the ADH1B gene that is involved in the Class I ADH gene cluster and contains another variant leading to a functional change.Methods: We focused on the southwestern-most people from the Ryukyu Islands ( n = 218) and those from northern Kyushu ( n = 21) where the Yayoi immigrants likely arrived. We investigated both the Class I ADH and ALDH2 loci, as well as neutral genetic markers.Results: In the Ryukyu Islands, the frequencies of the ancestral alleles in both loci were always higher than those in mainland Japan, while the frequencies of ADH1B were less than those of the derived allele. A haplotype block was not observed in ALDH2 but was in Class I ADH. Discussion: Our data suggest that the derived allele of ALDH2 came with the Yayoi immigrants from the Asian continent to the Japanese archipelago. However, the derived allele of ADH1B is unlikely to be related to the Yayoi migration. Therefore, we postulate that the expansion of the derived allele of ADHIB in East Asia could be traced back to the last glacial period.