重庆地区汉族人群HLA-DRB1等位基因多态性研究

目的了解中国重庆地区汉族人群人类白细胞抗原HLA-DRB1基因多态性及其分布特点。方法应用自行建立的聚合酶链式反应-测序为基础的分型方法(PCR-SBT)对190例重庆地区汉族人群进行HLA-DRB1基因分型和多态性分析。结果共检测出13种HLA-DRB1等位基因,20种等位基因型。其中,HLA-DRB1*09:01(29.1%)等位基因频率最高,其次为HLA-DRB1*04:05(12.2%)、HLA-DRB1*08:03(9.3%),基因频率最低的是HLA-DRB1*12:01、HLA-DRB1*12:02、HLA-DRB1*14:05和HLA-DRB1*15:02,各占1.26%。此外,检出的20种HLA-DRB1等位基因型在男女性别间无显著差异。结论成功建立并优化了HLA-DRB1的PCR-SBT基因分型方法;重庆地区汉族人群HLA-DRB1等位基因呈现多态性,为群体遗传和疾病关联的研究提供了可靠的遗传学数据。

HLA-DRB1 allele gene polymorphisms of the Han population in Chongqing district

This study designed to investigate HLA-DRB1 allele frequency and polymorphism of Han population in Chongqing district.Polymerase chain reaction-sequence based typing(PCR-SBT) was used to detect gene-types and polymorphisms of HLA-DRB1 allele in 190 Han individuals in Chongqing.Total of 13 HLA-DRB1 alleles and 20 allele genotypes were detected in 190 samples.The allele frequency of HLA-DRB1*09:01(29.1%) was the highest among these alleles,then HLA-DRB1*04∶05(12.2%),HLA-DRB1*08:03(9.3%).HLA-DRB1*12:01,12:02,14:05 and 15:02 were the lowest alleles(1.26% respectively).In addition,There was no difference in allele frequency between male and female individuals.The method of HLA-DRB1 genotyping with PCR-SBT was successfully established.We found that the HLA-DRB1 alleles were highly polymorphic in Chongqing district which will be a convincing evidence for the study of the association between genetic factors and disease.