西北地区汉族人群HLA-A、-B、-DRB1基因座单倍型分析

目的 分析西北地区汉族群体HLA-A、-B和-DRB1基因座等位基因频率和HIA-A-B、B-DRB1和A-B-DRB1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HLA-A、-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HLA-A等位基因，28个HLA-B等位基因，13个HLA-DRB1等位基因，A02、A11、A24、B13、B15、1340、DRB1＊04、DRB1＊07、DRB1＊09和DRB1＊15基因频率较高（〉10％），A02（0．3244）、B13（0．1200）和DRB1＊15（0．1400）等位基因频率最高。分析得出HLA-A-B、B-DRB1、A-B-DRB1单倍型分别有122、147和278种，83种A-B-DRB1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）。A30-B13-DRB1＊07、A02-B46-DRB1＊09、A01-B37-DRB1＊10、A24-B15-DRB＊15、A02-B46-DRB1＊08、A33-B58-DRB1＊03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。

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

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 oligonucleotide probes (PCR-SSOP) DNA typing methods. Results Fifteen alleles for the locus HLA-A, 28 alleles for the HLA-B locus and 13 alleles for the HLA-DRB1 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-DRB1 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 haplotypes were 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.