Abstract

The present study was aimed to study HLA-DRB1, -DQB1 alleles and haplotypes of two endogamous groups of South India. PCR-SSP typing of HLA-DRB1, -DQB1 alleles were performed on 63 Mukkuvar, primarily a coastal population and 101 Valayar, a population primarily living on the fringes of forest areas. Genetic distances, neighbor-joining dendrograms and correspondence analysis have been performed. The HLA class II alleles, DRB1*07 (32.5%), DRB1*15 (23.0%), DRB1*13 (11.1%) and DRB1*12 (10.3%) were more frequent among Mukkuvar. Among Valayar, DRB1*12 (18.8%), DRB1*15 (17.3%), DRB1*04 (15.4%), DRB1*07 (13.4%) and DRB1*10 (10.9%) were more frequent. Similarly, DQB1*06 (38.1%), DQB1*02 (26.2%) and DQB1*05 (20.5%) alleles among Mukkuvar and DQB1*06 (40.2%) and DQB1*05 (28.9%) among Valayar were more frequent. We genotyped the two most common South Indian two-locus haplotypes, such as DRB1*15-DQB1*06 and DRB1*07-DQB1*02 for HLA-A, -B and -C alleles to identify the 5-locus extended haplotypes. We identified the presence of a highly unique extended haplotype A*03-B*35-C*12-DRB1*07-DQB1*02 in Valayar (HF: 0.2777) and Mukkuvar (HF: 0.1666) hitherto not reported in any of the world populations. The HLA-DRB1 allele based phylogenetic analysis have demonstrated the unique and distinct phylogenetic relatedness of Mukkuvar and Valayar with other ethnic populations. The coastal population Mukkuvar is more closely related to Hispanic and Guanche populations. However, the Valayar revealed phylogenetic relatedness with Austronesian and Micronesian populations supporting the theory of coastal migrations of Out-of-Africa ancestral founding populations.

中文翻译：

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HLA等位基因和单倍型在讲泰米尔语的南印度人口中的分布：与西班牙和南澳大利亚人的亲和力

摘要

本研究旨在研究印度南部两个内婚群体的HLA-DRB1，-DQB1等位基因和单倍型。对63个Mukkuvar（主要是沿海人口）和101个Valayar（主要生活在森林地区边缘）进行了HLA-DRB1，-DQB1等位基因的PCR-SSP分型。遗传距离，邻居连接树状图和对应分析已经执行。在Mukkuvar中，HLA II类等位基因DRB1 * 07（32.5％），DRB1 * 15（23.0％），DRB1 * 13（11.1％）和DRB1 * 12（10.3％）更常见。在瓦拉亚人中，DRB1 * 12（18.8％），DRB1 * 15（17.3％），DRB1 * 04（15.4％），DRB1 * 07（13.4％）和DRB1 * 10（10.9％）更为频繁。同样，Mukkuvar中的DQB1 * 06（38.1％），DQB1 * 02（26.2％）和DQB1 * 05（20.5％）等位基因以及Valayar中的DQB1 * 06（40.2％）和DQB1 * 05（28.9％）等位基因更为频繁。我们对南印度的两个最常见的两基因座单倍型进行了基因分型，例如针对HLA-A，-B和-C等位基因的DRB1 * 15-DQB1 * 06和DRB1 * 07-DQB1 * 02，以识别5个基因座扩展的单倍型。我们确定了迄今为止在任何一个文献中都未报道过的高度独特的扩展单倍型A * 03-B * 35-C * 12-DRB1 * 07-DQB1 * 02在Valayar（HF：0.2777）和Mukkuvar（HF：0.1666）中的存在世界人口。基于HLA-DRB1等位基因的系统发育分析已证明Mukkuvar和Valayar与其他种族的独特而独特的系统发育相关性。沿海人口Mukkuvar与西班牙裔和Guanche人口关系更为密切。然而，瓦拉亚人揭示了与南极和密克罗尼西亚人口的系统发育关系，支持了非洲以外祖先创始种群的沿海迁徙理论。