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南宁汉族人群中HLA - A、HLA - B和HLA - DRB1基因高分辨率的等位基因及单倍型多样性

Allelic and haplotype diversity of HLA-A, HLA-B and HLA-DRB1 gene at high resolution in the Nanning Han population.

作者信息

Pei YongFeng, Huang HuiNi, Li HengCong, Chen JieRun, Wu GuoGuang

机构信息

Nanning Blood Center, Nanning Institute of Transfusion Medicine, Nanning, China.

出版信息

Int J Immunogenet. 2018 Aug;45(4):201-209. doi: 10.1111/iji.12379. Epub 2018 Jun 15.

Abstract

The distribution of human leucocyte antigen (HLA) allele and haplotype varied among different ethnic populations. In this study, we investigated the allele and haplotype frequencies of HLA-A, HLA-B and HLA-DRB1 loci in the Nanning Han population who live in Guangxi province of China. We identified 26 HLA-A, 56 HLA-B and 31 HLA-DRB1 alleles in 562 Nanning individuals of Han ethnic group by sequence-based typing method. Of these, the three most common alleles in HLA-A, HLA-B and HLA-DRB1 loci, respectively, were A11:01 (32.12%), A02:07 (12.54%), A24:02 (12.01%); B46:01 (14.41%), B15:02 (13.61%), B40:01 (11.48%); DRB115:01 (14.15%), DRB116:02 (11.57%) and DRB112:02 (10.14%). With the exception of HLA-DRB1, the p values of the HLA-A and HLA-B loci showed that the HLA allelic distribution in this population was in accordance with Hardy-Weinberg expectation (p > 0.05). A total of 173 HLAA-BDRB1 haplotype with a frequency of >0.1% were presented and the three most common haplotype were HLA-A33:03B*58:01DRB103:01 (6.12%), HLA-A11:01B*15:02DRB112:02 (3.39%) and HLA-A11:01B*15:02DRB1*15:01 (3.22%). The phylogenetic tree and the principal component analysis suggested that Nanning Han population had a relative close genetic relationship with Chinese Zhuang population and a relative distant genetic relationship with Northern Han Chinese. The information will be useful for anthropological studies, for HLA matching in transplantation and disease association studies in the Chinese population.

摘要

人类白细胞抗原(HLA)等位基因和单倍型的分布在不同种族人群中存在差异。在本研究中,我们调查了居住在中国广西省南宁市的汉族人群中HLA - A、HLA - B和HLA - DRB1基因座的等位基因和单倍型频率。通过基于序列的分型方法,我们在562名南宁汉族个体中鉴定出26个HLA - A等位基因、56个HLA - B等位基因和31个HLA - DRB1等位基因。其中,HLA - A、HLA - B和HLA - DRB1基因座中最常见的三个等位基因分别为:A11:01(32.12%)、A02:07(12.54%)、A24:02(12.01%);B46:01(14.41%)、B15:02(13.61%)、B40:01(11.48%);DRB115:01(14.15%)、DRB116:02(11.57%)和DRB112:02(10.14%)。除HLA - DRB1外,HLA - A和HLA - B基因座的p值表明该人群中的HLA等位基因分布符合哈迪 - 温伯格期望(p > 0.05)。共呈现了173种频率>0.1%的HLA - A - B - DRB1单倍型,其中最常见的三种单倍型为:HLA - A33:03B*58:01DRB103:01(6.12%)、HLA - A11:01B*15:02DRB112:02(3.39%)和HLA - A11:01B*15:02DRB1*15:01(3.22%)。系统发育树和主成分分析表明,南宁汉族人群与中国壮族人群具有相对密切的遗传关系,与中国北方汉族人群具有相对较远的遗传关系。这些信息将有助于人类学研究、中国人群移植中的HLA配型以及疾病关联研究。

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