重庆地区人群HLA-A、B、DRB1基因多态性研究  

Study on genetic polymorphism of HLA-A,B,DRB1 allele in Chongqing population

作　　者：毛伟[1] 黄霞[1] 王蓉感[1] 王芳[1] 

机构地区：[1]重庆市血液中心,400015

出　　处：《重庆医学》2006年第14期1286-1288,共3页Chongqing medicine

摘　　要：目的了解重庆分库HLA-A、B、DRB1基因多态性,分析重庆地区人群HLA-A、B、DRB1基因频率分布特征,为重庆地区建立造血干细胞捐献者资料库提供依据。方法采用PCR-SSP方法对来自中国造血干细胞捐献者资料库重庆分库的3 957名无血缘关系的捐献者进行基因分型,计算HLA-A、B、DRB1基因频率,并与其他人群进行比较。结果在重庆地区人群中检出了75种HLA基因特异型。其中HLA-A位点19个,HLA-B位点41个,HLA-DR位点15个。A*02(29.37%),A*11(29.1%)和A*24(17.3%)为重庆分库捐献者HLA-A座位的主要等位基因;HLA-B座位中,B*46(14.98%),B*4001(13.19%)和B*13(9.39%)为主;HLA-DRB1座位以DRB1*09,DRB1*15,DRB1*12,DRB1*04出现频率高。结论重庆地区人群的HLA基因多态性与南方汉族接近,并有其特点。HLA基因分布具有民族和地域特征,为了能最大限度地募集到带有不同HLA分型的造血干细胞供者,有必要在我国多个地区筛选造血干细胞捐献者。Objective To investigate the genetic polymorphism of HLA-A,B,DRB1 allele in Chongqing population and to analyze the characteristic of the allele frequency distribution and show the necessity of building the haematopoietic stem cell donor data bank in Chongqing. Methods The technique of polymerase chain reaction sequence specific primers was adopted in genotyping a sample of 3 957 unrelated individuals collected from Chongqing,China. The allele frequency of H LA-A,B, DRB1 was calculated,and the allele frequency distribution of H LA-A, B,DRB1 in this population was compared with the results from various regions. Results Seventy-firve HLA specificity alleles were found in Chongqing population. The number of alleles identified was 19 for HLA-A, 41 for HLA-B, 15 for HLA-DR, respectively. The most frequent HLA-A alleles were A ＊ 02（29.37%）, A ＊ 11（29.1%） and A ＊ 24（17.3%）. For the HLA-B locus, the most common in descending order were B ＊ 46（14.98%）,B ＊ 4001（12.91%） and B 13（9.39%）. For the HLA class-Ⅱ loci, DRBI＊ 09（16. 98,%）, DRB1＊ 15（12.93%）, DRB1＊ 12（12. 18%）and DRB1＊ 04 （10.62%） were the most frequent DR alleles. Conclusion Distribution of the allele polymorphism of HLA in Chongqing population is similar to that in Southern Han population, and it exhibits its own characteristic. The discrepancy of HLA gene distribution in various regions shows the necessity of setting the more regions in China to screen the haematopoietic stem cell registry donors for the haematopoietic stem cell transplant.

关 键 词：HLA 基因频率 基因多态性 

分 类 号：Q987[生物学—遗传学]