中国北方汉族人群HLA基因多态性研究

目的：分析中国北方汉族人群HLA-A，-B，-DRB1位点基因多态性，获得完整、准确的北方汉族HLA分子遗传学数据。方法：应用PCR-SSP及SSOP技术对8924名北方汉族造血干细胞志愿捐献者进行HLA-A，-B，-DRB1位点基因分型。结果：共检出低分辨HLA-A基因18种，HLA-B基因44种，HLA-DRB1基因13种，其中包括某些以前国内未检出的低频率基因。北方汉族人群最常见的HLA基因为A^*02、B^*13和DRB1^*15，其相应基因频率分别为0.2886、0.1430和0.1759；北方汉族人群最常见的A-B单倍型为A^*30-B^*13，频率为0.0895，最常见的A-B-DRB1单倍型是A^*30-B^*13-DRB1^*07，频率为0.0742。结论：北方汉族人群HLA-A，-B，-DRB1基因具有显著多态性，大样本和DNA分型有助于HLA低频率基因的检出。

HLA allele polymorphism in northern Hans of China

Objective: To analyze the polymorphism of HLA-A,-B,and-DRB1 in northern Hans of China and obtain more comprehensive and accurate data about HLA molecular genetics.Methods: The methods of polymerase chain reaction-sequence specific primers and-sequence specific oligonucleotide probing(PCR-SSP and-SSOP) were used to determine the HLA-A,-B,and-DRB1 alleles in 8 924 unrelated healthy Han individuals in northern China.Results: Low resolution alleles 18 HLA-A,44HLA-B and 13 HLA-DRB1 including some rare HLA alleles that had not been reported in China before were discovered in this study.The most prevalent HLA types were A*02,B*13 and DRB1*15,with a gene frequency of 0.288 6,0.143 0 and 0.175 9 respectively.The most common A-B haplotype in this study was A*30-B*13 with a haplotype frequency of 0.0895.The most common HLA-A-B-DRB1 haplotype was A*30-B*13-DRB1*07 with a haplotype frequency of 0.074 2.Conclusion: HLA-A,-B,and-DRB1 alleles in the northern Hans of China are high polymorphic.Large scale DNA based on HLA genotyping contributes to the detection of low frequency alleles.