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目的检测广东汉族人群HLAA、B、Cw、DRB1基因频率,分析该人群HLAⅠ、Ⅱ等位基因多态性及其单倍型特点。方法骨髓移植供者160人,抗凝血提取DNA,半量全自动聚合酶链反应单链构象多态分型检测HLAA、B、Cw、DRB1基因型。结果在低分辨水平分别检出HLAA、B、Cw及DRB1等位基因12、23、11、13个。统计分析呈现显著连锁不平衡的HLAAB单倍型9个,BCw单倍型20个,ACw单倍型7个,HLAADRB1单倍型8个,BDRB1单倍型9个,CwDRB1单倍型10个。结论广东汉族群体HLA基因具有较为丰富的多态性,其双座位连锁不平衡单倍型具有地区性遗传特征。
Objective To detect the frequency of HLAA, B, Cw and DRB1 gene in Guangdong Han population and to analyze the polymorphism of HLA Ⅰ and Ⅱ alleles and their haplotype characteristics. Methods 160 patients with bone marrow transplantation, DNA extraction from anticoagulant blood and single-strand conformation polymorphism semi-quantitative polymerase chain reaction were used to detect HLAA, B, Cw and DRB1 genotypes. Results The alleles 12, 23, 11 and 13 of HLAA, B, Cw and DRB1 were detected at low resolution. Statistical analysis showed that there were 9 HLA haplotypes, 20 BCw haplotypes, 7 ACw haplotypes, 8 HLADRB1 haplotypes, 9 BDRB1 haplotypes and 10 CwDRB1 haplotypes. Conclusion The HLA gene of Guangdong Han population is rich in polymorphism, and its two-locus linkage disequilibrium haplotype has regional genetic characteristics.