Allelic variation of the human ABO secretor locus (FUT2) in the world wide populations

我们分析了新几内亚和斯里兰卡人群中FUT 2的等位基因变异。对新几内亚的90名伊里安人、101名混合伊里安人、32名巴布亚新几内亚人和斯里兰卡的54名僧伽罗人、58名泰米尔人进行了FUT 2基因外显子序列测定。然而，在FUT 2的非功能性等位基因的总频率在许多人群中，到目前为止，检查约为0.5，只有一个个体是杂合子的非功能性等位基因的伊利诺人和非功能性等位基因的频率为0.1-0.2的混合伊利诺人。新几内亚人群具有独特的功能等位基因（Se^<375>，仅在非洲检测到，Se^<400>），频率很高。F值<st>表明新几内亚居群与邻近居群间存在较大的遗传分化。这些结果反映了早期人类从非洲迁移到新几内亚，以及与邻近人群的长期隔离。僧伽罗人和泰米尔人的非功能等位基因总频率分别为0.38和0.53 关于我们 主要非功能等位基因存在差异，但等位基因多态性与孟加拉人相似。在两个群体中均未发现亚洲人特有的无效等位基因se^<385>，而在伊朗人群体中发现的Se 278在两个群体中均存在。这些结果表明，这两个群体的遗传背景并不完全相同，亚洲群体的贡献不大。我们还分析了STR位于3.8 kb的下游FUT 2（FUT 2/01）在300个人从三个主要种族。FUT 2/01基因座在非洲和高加索人群中均表现出较高的微变异，而在日本人群中表现出简单的重复结构。FUT 2/01基因座的复杂等位基因结构、规则的结构序列分组和特征分布显示出明显的种族差异。此外，非洲人群与高加索人和日本人群共享部分单倍型。研究结果支持现代人类起源于非洲的假设。少

We analyzed allelic variation of the FUT2 in New Guinean and Sri Lanka populations. Coding exon of FUT2 was sequenced about Irianese (90), Admixed Irianese (101), Papua New Guineans (32) in New Guinea and Sinhalese (54), Tamil (58) individuals in Sri Lanka. Whereas the total frequency of nonfunctional alleles at the FUT2 in many populations so far examined is around 0.5, only one individual was heterozygous for a nonfunctional allele in Irianese and a frequency of nonfunctional alleles was 0.1-0.2 in Admixed Irianese. New Guinean populations had unique functional alleles (Se^<375>, which was detected only in Africa, and Se^<400>) with high frequencies. F_<st> values indicates large genetic differentiation between New Guinean populations and other neighboring populations. These results reflects the early human migration from Africa to New Guinea and long isolation from neighboring populations. Total frequency of nonfunctional alleles was 0.38 for Sinhalese and 0.53 for Tamil populations … More and major nonfunctional alleles were different, while allelic polymorphisms of both populations were similar to that of Bangladeshi. No Asian specific null allele se^<385> was encountered while Se278, which was identified in Iraniase population, was encountered in both populations. These results suggest that genetic backgrounds of these two populations were not identical and that no or less contribution from Asian populations. We also analyzed STR located 3.8 kb downstream of the FUT2 (FUT2/01) in 300 individuals from three major races. FUT2/01 locus showed high microvariation in both African and Caucasian populations, whereas it exhibited a simple repeat structure in a Japanese population. Complex allele structures, regular grouping of structural sequences and characteristic distributions in the FUT2/01 locus demonstrated significant race differences. In addition, the African population shared a part of haplotypes with both Caucasian and Japanese populations. The results support the out-of-Africa hypothesis of modern human origins. Less