浙江汉族人群HLA-DPA1和-DPB1基因多态性分析

目的 检测浙江地区汉族人群HLA-DPA1和HLA-DPB1等位基因及单倍型频率.方法 应用PCR-直接测序分型法对100名健康、无血缘关系的浙江汉族人外周血标本进行HLA-DPA1和HLADPB1等位基因分析.结果 在100份标本中检出8个HLA-DPA1等位基因和19个HLA-DPB1等位基因.HLA-DPA1等位基因频率较高的依次为DPA1*020202(47.0%)、DPA1*010301(38.5%)和DPA1*020101(10.5%).HLA-DPB1等位基因中,频率较高的依次为DPB1*0501(39.5%)、DPB1*020102(13.5%)和DPB1*040101(13.0%).连锁分析发现共有44个HLA-DPA1-DPB1单倍型,单倍型频率最高为DPA1*020202-DPB1*0501(29.5%).结论 浙江地区汉族人群HLA-DPA1和DPB1基因座等位基因具有丰富的多态性,2个基因座呈现连锁不平衡.

Analysis of the HLA-DPA1 and HLA-DPB1 polymorphism of Zhejiang Han population by PCR-sequence based typing

Objective To investigate the polymorphisms of HLA-DPA1 and HLA-DPB1 loci of Han population in Zhejiang province of China. Methods The alleles of HLA-DPAl and HLA-DPB1 loci in 100 unrelated healthy individuals were analyzed using polymerase chain reaction-sequence based typing. Results Eight HLA-DPA1 alleles and 19 HLA-DPB1 alleles were found in the population. The HLA-DPA1 alleles with higher frequencies were DPA1 * 020202 (47.0%), DPA1 * 010301 (38.5%) and DPA1 *020101(10.5%). The HLA-DPB1 alleles with higher frequencies were DPB1 * 0501, DPB1 * 020102 and DPB1 * 040101. The frequencies were 39.5%, 13.5% and 13.0%, respectively. A total of 44 estimated DPA1-DPB1 haplotypes were detected. The HLA-DPA1 * 020202-DPB1 * 0501 (29.5%) was the most frequent haplotype. Conclusion The polymorphism data of the HLA-DPA1 and-DPB1 were obtained in Han population in Zhejiang province of China. There was linkage disequilibrium between the two loci.