湖南苗族人群HLA-A, -B和-DRB1基因多态性的研究

目的：探讨湖南苗族人群HLA-A, -B和-DRB1位点等位基因及单倍型遗传多态性。 方法：应用聚合酶链反应-序列特异性寡核苷酸探针(PCR-SSO) 反向流式芯片方法对154例湖南苗族健康个体进行HLA-A, -B和-DRB1位点中低分辨基因分型，计算等位基因频率和单倍型频率，并与其他人群进行比较。 结果：154例湖南苗族个体的HLA-A，B，DRB1基因座分别检出等位基因10，25，13种，频率较高的等位基因有A*11(38.96%)，A*02(27.27%)，A*24(18.83%)，B*40(60)(17.53%)，B*46(13.96%)，B*15(75)(11.69%)，DRB1*09(15.26%)，DRB1*12(15.26%)，DRB1*15(15.26%)及DRB1*04(12.66%)等；高频的单倍型有A11-B60(9.60%)，A2-B46(9.27%)，A11-B75(9.22%)，B75-DR12(6.31%)，A11-DR12(9.62%)，A11-DR4(9.07%)，A11-DR15(6.69%)，A11-B75-DR12(5.43%)，A11-B60-DR4(4.24%)，A2-B46-DR9(3.71%)等。与国内其他人群比较显示，湖南苗族与南方人群HLA多态性较为相近。 结论：湖南苗族人群HLA等位基因及单倍型具有较高的遗传多态性，其分布具有中国南方人群的特点。

HLA-A, -B, and -DRB1 gene polymorphism in the Miao ethnic group of Hunan, China

Objective To investigate HLA-A, -B, and -DRB1 gene polymorphism in the Miao ethnic group in Hunan, China. Methods PCR-sequence specific oligonucleotide probes (SSO) reverse flow chip method was used to type HLA-A, -B, and -DRB1 genes of 154 unrelated healthy Miao ethnic individuals in Hunan. The allele and haplotype frequencies were calculated and compared with other populations in China. Results A total of 10 HLA-A, 25 HLA-B, and 13 HLA-DRB1 alleles were observed in the population. The higher frequency alleles included A*11(38.96%), A*02(27.27%), A*24(18.83%), B*40(60)(17.53%), B*46(13.96%), B*15(75)(11.69%), DRB1*09(15.26%), DRB1*12(15.26%), DRB1*15(15.26%), and DRB1*04(12.66%). The most frequent haplotypes were A11-B60(9.60%), A2-B46(9.27%), A11-B75(9.22%), B75-DR12(6.31%), A11-DR12(9.62%), A11-DR4(9.07%), A11-DR15(6.69%), A11-B75-DR12(5.43%), A11-B60-DR4(4.24%), and A2-B46-DR9(3.71%). Compared with other populations in China, HLA gene polymorphism of Hunan Miao population was close to that of southern population. Conclusion HLA loci are highly polymorphic in the Miao population of Hunan, and their distribution has the character of South China population.