西北地区汉族人群HLA-A、-B、-DRB1基因座单倍型分析

Analysis on HLA haplotypes of loci HLA-A, -B, and -DRB1 in northwest Chinese Han population

目的分析西北地区汉族群体HLAA、B和DRB1基因座等位基因频率和HLAAB、BDRB1和ABDRB1单倍型,获得单倍型频率数据。方法采用序列特异性寡核苷酸探针反向斑点杂交技术对西北地区62个家系和101个无关个体HLAA、B和DRB1基因座进行基因分型,分析HLA单倍型。结果在西北地区汉族人群中检出15个HLAA等位基因,28个HLAB等位基因,13个HLADRB1等位基因,A02、A11、A24、B13、B15、B40、DRB104、DRB107、DRB109和DRB115基因频率较高(>10%),A02(0.3244)、B13(0.1200)和DRB115(0.1400)等位基因频率最高。分析得出HLAAB、BDRB1、ABDRB1单倍型分别有122、147和278种,83种ABDRB1单倍型有至少两条以上相同的单倍型,占总单倍型数的18.44%(83/450)。A30B13DRB107、A02B46DRB109、A01B37DRB110、A24B15DRB15、A02B46DRB108、A33B58DRB103是最常见的单倍型。结论西北地区汉族群体HLA单倍型多态性较为丰富,等位基因频率和单倍型频率数据可用于骨髓移植供者的选择、法医学亲权鉴定以及人类学研究。

Objective To investigate HLA-A,-B and -DRB1 allele and HLA-A-B, B-DRB1, A-B-DRB1 haplotype frequencies in the northwest Chinese Han population. Methods The authors investigated the HLA-A, -B, -DRB1 allele and haplotype in a northwest Chinese Han population based on 62 families and 101 individuals by use of PCR-sequence specific oligonucleetide probes （PCR-SSOP） DNA typing methods. Results Fifteen alleles for the locus HLAA, 28 alleles for the HLA-B locus and 13 alleles for the HLA-DRBI were detected. The results showed that the most frequent HLA alleles found were A02 （0.3244）, B13 （0. 1200）, and DRB1 ＊ 15 （0. 1400）. Allele frequencies of more than 10% for HLA antigens were A02, A11, A24, B13, B15, B40, DRB1 ＊ 04, DRB1 ＊ 07, DRB1 ＊ 09, DRB1 ＊ 15. In the analysis of HLA haplotypes, 122 kinds of HLA-A-B haplotypes and 147 kinds HLA-B-DRBI haplotypes were found. Two hundred and seventy-eight kinds of HLA-A-B-DRB1 haplotypes were found, comprising 61.78% （278/450） of total theoretical haplotypes. Eighty-three kinds of HLA-A-B-DRB1 haplotypes were shown to have at least two same haplotypes, comprising 18.44% （83/450） of total theoretical haplotypes. The most common HLA-A-B-DRB1 haplotypeswere A30-B13-DRB1 ＊ 07, A02-B46-DRB1 ＊ 09, A01-B37-DRB1 ＊ 10, A24-B15-DRB1 ＊ 15, A02-B46-DRB1 ＊ 08, A33-B58-DRB1 ＊ 03. Conclusion The data can be used for the estimation of the probability of finding haplotypically identical, related or unrelated bone marrow donor for an individual patient, and forensic and paternity tests to estimate the frequency of a DNA profile or anthropologic research.