Unique TCR β-subunit variable gene haplotypes in Africans

Unique TCR β-subunit variable gene haplotypes in Africans
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DOI:
10.1007/s00251-001-0406-8
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发表时间:
2002-02-01
期刊:
影响因子:
3.2
通讯作者:
Boylston, AW
Boylston, AW
中科院分区:
医学4区
文献类型:
--
作者:
Donaldson, IJ;Shefta, J;Boylston, AW

文献摘要

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本研究调查了 T 细胞抗原受体亚基 (TCRB) 基因座两个区域的基因多态性,包括 5' 连锁群中的 BV9S2P 和 BV6S7,以及 3' 连锁群中的 BV8S3、BV24SI、BV25SI、BV18SI、BV2SI、BV15SI 和 BV3SI。这些基因座已在非洲五个地区的个体中进行了基因分型,包括冈比亚、尼日利亚、喀麦隆、坦桑尼亚和赞比亚,以及来自英国北部、印度北部和巴布亚新几内亚 (PNG) 的个体。在 3' 连锁群中,在非洲组合人群中鉴定出了 11 种独特的单倍型;两个同样常见的单倍型代表了非洲染色体的大部分。在所有四个研究区域中都发现了一种单倍型。这是英国北部、印度北部和巴布亚新几内亚人群中最常见的单倍型。尽管存在,但在非洲人群中并不常见。观察到常见非洲单倍型频率的南北梯度。该分布并不代表已知疾病的分布。有证据表明疟疾并不是这些单倍型的选择的原因。总体而言,这项研究强调了非洲人和其他人群之间 L TCRB 基因座的遗传构成存在巨大差异。
This study investigated polymorphisms of genes in two regions of the T-cell antigen receptor -subunit (TCRB) locus, including BV9S2P, and BV6S7 in a 5' linkage group, and BV8S3, BV24SI, BV25SI, BV18SI, BV2SI, BV15SI and BV3SI in a 3' link-age group. These loci have been genotyped in individuals from five regions in Africa, including The Gambia, Nigeria, Cameroon, Tanzania, and Zambia, and in individuals from northern Britain, northern India, and Papua New Guinea (PNG). In the 3' linkage group, 11 unique haplotypes were identified in the combined African populations; two equally frequent haplotypes represent the majority of African chromosomes. One haplotype was found in all four regions studied. This is the most frequent haplotype in the northern British, northern Indian and PNG populations. Although present, it is infrequent in the African populations. A North-South gradient in the frequency of a common African haplotype was observed. The distribution did not represent that of a known disease. Evidence suggests that malaria is not responsible for selection of these haplotypes. Overall, this study highlights large differences in the genetic constitution of L the TCRB locus between Africans and other populations.