DNA sequence variation of the human ABO-secretor locus (FUT2) in New Guinean populations:: possible early human migration from Africa

DNA sequence variation of the human ABO-secretor locus (FUT2) in New Guinean populations:: possible early human migration from Africa
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DOI:
10.1007/s00439-003-1013-6
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发表时间:
2003-11-01
期刊:
影响因子:
5.3
通讯作者:
Kimura, H
Kimura, H
中科院分区:
生物学2区
文献类型:
--
作者:
Koda, Y;Ishida, T;Kimura, H

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采用DNA测序技术,对90名无关巴布亚人、101名印度尼西亚伊里安查亚混血儿和32名巴布亚新几内亚人进行了人类ABO-分泌器基因座(FUT2)等位基因的分析。在迄今研究的全球人群中,FUT2基因座上各种非功能等位基因的总频率约为0.5,但我们发现,在90名达尼族成员中,只有一个个体的非功能等位基因杂合,在混杂的新几内亚人中,非功能等位基因的频率为0.1-0.2。混杂的新几内亚人具有亚洲特有的零等位基因Se(385)和在波利尼西亚人中发现的特有的无功能等位基因Se(Del2)。此外,两个新几内亚种群都有独特的功能等位基因(Se-375和Se-400),频率很高(0.11-0.37);除非洲和萨摩亚种群外,世界上其他种群中都没有这些等位基因。Se-375等位基因在3‘非翻译区的1009位和1011位分别有G和C,而目前世界上发现的除Se(428)外的所有FUT2等位基因都有1009A和1011T。在非洲人中发现的se-375等位基因有1009G和1011T,或1009A和1011T。非人灵长类的对应位置有G和C,提示Se-375等位基因是人类祖先的等位基因之一,反映了早期人类从非洲迁徙到新几内亚,以及达尼种群与邻近种群的长期隔离。
We have investigated the allelic polymorphism of the human ABO-secretor locus (FUT2) in 90 unrelated Papuan-speaking New Guineans (Dani group), 101 admixed New Guineans from Irian Jaya, Indonesia, and 32 New Guineans from Papua New Guinea by DNA sequencing analysis. Whereas the total frequency of various nonfunctional alleles at the FUT2 locus in the worldwide populations so far examined is around 0.5, we have found only one individual heterozygous for a nonfunctional allele in the 90 Dani group members and a frequency of nonfunctional alleles of 0.1-0.2 in the admixed New Guineans. Admixed New Guineans had the Asian-specific null allele se(385) and the characteristic nonfunctional allele se(del2) found in Polynesians. In addition, both New Guinean populations had unique functional alleles (Se-375 and Se-400) with high frequencies (0.11-0.37); these are absent in other populations of the world except for African and Samoan populations. The Se-375 allele had G and C at positions 1009 and 1011 of the 3' untranslated region, respectively, whereas all other FUT2 alleles found so far in the world, except for se(428), have 1009A and 1011T. The Se-375 allele found in Africans has 1009G and 1011T, or 1009A and 1011T. Corresponding positions of nonhuman primates have G and C, suggesting that the Se-375 allele is one of the ancestral alleles, reflecting the early human migration from Africa to New Guinea and the long isolation of Dani populations from neighboring populations.