山东省汉族人群HLA-A、B、DRB1位点基因多态性研究  

HLA-A,B,DRB1 allele Polymorphism in Hans from Shandong Province of China

作　　者：宋永红[1] 李文超[1] 朱传福[1] 聂向民[1] 王玫[1] 刘艳[1] 张萍[1] 

机构地区：[1]山东省血液中心HLA研究室,山东济南250014

出　　处：《医学检验与临床》2006年第3期16-19,共4页Medical Laboratory Science and Clinics

基　　金：山东省卫生厅青年科学研究基金资助项目(项目编号:2003-38)

摘　　要：目的分析山东省汉族人群HLA-A、B、DRB1位点基因多态性,获得更完整、准确的群体HLA分子遗传学数据。方法应用PCR-SSP及SSOP技术对7418名山东省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,B基因44种,DRB1基因13种,其中包括一些以前国内未检出的低频率基因。山东汉族人群最常见的HLA基因为A*02、B*13和DRB1*15,其相应基因频率分别为0.2883、0.1431和0.1762;山东汉族人群最常见的A-B单倍型为A*30-B*13,频率为0.0896,最常见的A-B-DRB1单倍型是A*30-B*13-DRB1*07,频率为0.0743。结论山东省汉族人群HLA-A、B、DRB1基因具有显著多态性,大样本和DNA分型有助于低频率基因的检出,适当扩大造血干细胞库志愿捐献者登记人数及各地重新进行HLA多态性分析实有必要。Objective To analyze the polymorphism of HLA-A,B,DRB1 in the Hans of Shandong Province and obtain more comprehensive and accurate HLA molecular genetic data of population.Methods The method of polymerase chain reaction-sequence specific primers and-sequence specific oligonucleotide probing(PCR-SSP and-SSOP) was used to determine HLA-A,B,DRB1 alleles in 7418 unrelated healthy Han individuals of Shandong Province.Results 18 HLA-A,44HLA-B and 13 HLA-DRB1 low resolution alleles including some rare HLA alleles that had not been reported in China before were discovered in this study.the most prevalent HLA type was A*02,B*13 and DRB1*15,with gene frequency of 0.2883,0.1431 and 0.1762 respectively.The most common A-B haplotype was found to be A*30-B*13 with haplotype frequency of 0.0896.The most common HLA-A-B-DRB1 haplotype was A*30-B*13-DRB1*07 with haplotype frequency of 0.0743.Conclusion HLAA,B,DRB1 alleles in the Hans of Shandong Province were high polymorphic.Large scale DNA based HLA genotyping contributes to the detection of low frequency alleles.It is necessary to enlarge the number of volunteer donors and analyse HLA polymorphism again.

关 键 词：山东省 汉族人群 位点 基因多态性 造血干细胞 低频率基因 捐献者 单倍型 分子遗传学 多态性分析 目的分析 基因频率 基因分型 细胞库 低分辨 大样本 应用 数据 群体 技术 

分 类 号：Q987[生物学—遗传学]