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

全球人群中人类 ABO 分泌基因座 (FUT2) 的等位基因变异

• 批准号: 14570399
• 负责人: TEYE Kwesi
• 金额: $ 2.3万
• 依托单位: KURUME UNIVERSITY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2002
• 资助国家: 日本
• 起止时间: 2002 至 2003
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-14570399/
• 关键词: FUT2; secretor; SNPs; New Guinea; Sri Lanka; variation; null allele; タミル; シンハラ; Papua New Guinea; Irianese

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

我们分析了新几内亚和斯里兰卡人群中FUT2的等位基因变异。对新几内亚的伊朗人（90人）、混合伊朗人（101人）、巴布亚新几内亚人（32人）和斯里兰卡的僧伽罗人（54人）、泰米尔人（58人）的FUT2编码外显子进行测序。到目前为止，在许多人群中，FUT2的非功能性等位基因的总频率约为0.5，而在伊朗人中，只有一个人的非功能性等位基因是杂合的，而在混合伊朗人中，非功能性等位基因的频率为0.1-0.2。新几内亚种群具有独特的高频率功能性等位基因（Se^<375>，仅在非洲发现）。F_<st>值表明新几内亚种群与其他邻近种群之间存在较大的遗传分化。这些结果反映了早期人类从非洲向新几内亚的迁徙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性等位基因的总频率分别为0.38和0.53，两种人群的非功能性等位基因在数量和主要程度上存在差异，但等位基因多态性与孟加拉人相似。未发现亚洲特异性空等位基因se^<385>，而在伊朗酶人群中发现的Se278在两个人群中均有发现。这些结果表明，这两个种群的遗传背景并不相同，亚洲种群的贡献没有或很少。我们还分析了来自三个主要种族的300名个体中位于FUT2下游3.8 kb的STR （FUT2/01）。FUT2/01位点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。FUT2/01基因座复杂的等位基因结构、规律的结构序列分组和特征分布具有显著的种族差异。此外，非洲人群与白种人和日本人群共享部分单倍型。研究结果支持了现代人类起源于非洲的假说。少

项目成果

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Yamagishi S、Amano S、Inagaki Y、Okamoto T、Koda Y. Soejima M、Kimura H.：“糖尿病微血管病患者的色素上皮衍生因子 Met72Thr 多态性。”Int J Clin Pharmacol Res.. 22. 67-71（

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B.Wang：“中国和非洲（科萨）人群中八个 STR 位点的多态性”Forensic Sc​​i.Int.

Tsuneoka M, Umata T, Kimura H, Koda Y, Nakajima M, Kosai K, Takahashi T, Takahashi Y, Yamamoto A: "C-Myc induces autophagy in rat 3Y1 fibroblast cells."Cell Struct Funct. 28. 195-204 (2003)

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Nakayama K, Fukamachi S, Kimura H, Koda Y, Soemantri A, Ishida T.: "Distinctive distribution of AIM1 polymorphism among major human populations with different skin color."J Hum Genet.. 47. 92-94 (2002)

Nakayama K、Fukamachi S、Kimura H、Koda Y、Soemantri A、Ishida T.：“AIM1 多态性在不同肤色的主要人群中的独特分布。”J Hum Genet.. 47. 92-94 (2002)

Koda Y, Seto Y, Takeichi 5, Kimura H.: "Fatal subarachnoid hemorrhage Complicating actinomycotic meningitis."Forensic Sci Int.. 134. 169-171 (2003)

Koda Y、Seto Y、Takeichi 5、Kimura H.：“致命的蛛网膜下腔出血并发放线菌性脑膜炎。”法医科学国际.. 134. 169-171 (2003)