山西汉族人群HLA-A、-B、-DRB1基因多态性研究

目的 调查山西汉族人群HLA-A、-B、DRB1基因多态性，获得完整准确的遗传学数据。方法 应用聚合酶链反应，序列特异性引物方法对7440名健康、无血缘关系的山西汉族个体进行HLA—A、-B、-DRB1基因型检测，并与不同人群等位基因进行比较。结果 检出A等位基因18个，B等位基因40个，DRB1等位基因13个，其中A＊02、A＊24、A＊11、A＊01、A＊03、B＊13、B＊51、B＊15、B＊40、B＊35、DRB1＊15、DR＊09、DR＊1：2、DR＊04、DR＊07等位基因频率分布较高。结论 山西汉族人群HLA—A，-B，-DRB1基因具有中国北方汉族人群共有的遗传特征，但也有其自身的分布特点。

Polymorphism of HLA-A,-B and DRB1 in Han population of Shanxi province

Objective To investigate the polymorphism of?HLA-A,-B,- DRB1 genes in Han population in Shanxi of China. Methods Polymerase chain reaction-sequence specific primers(PCR-SSP)technique was used to identify the polymorphism of?HLA-A,-B,-DRB1 genes of 7440 healthy and unrelated individuals of Han population in Shanxi, and the gene frequency distribution of?HLA-A,-B,- DRB1genes in population was compared with the results from other populations. Results Eighteen HLA-A, forty HLA-B and thirteen HLA-DRB1 alleles were found. The frequencies of A*02, A*24,A*11,A*01,A*03,B*13,B*51,B*15,B*40,B*35,DRB1*15,DR*09,DR*12,DR*04,DR*07 alleles in Hans of Shanxi were significantly higher and displayed distinctive distribution profiles when compared with those of Caucasian and Afro-American. Conclusion The HLA-A,-B,-DRB1 distribution in Shanxi Han population shares some genetic characteristics with other Han populations in northern part of China, but it exhibits its own characteristics.