四川地区汉族群体HLA基因频率分布  

Allele frequency of human leukocyte antigen in Han population of Sichuan province

作　　者：任然[1] 代波[1] 庄杰[1] 宋兴勃[1] 应斌武[1] 

机构地区：[1]四川大学华西医院实验医学科,四川成都610041

出　　处：《分子诊断与治疗杂志》2010年第4期223-226,共4页Journal of Molecular Diagnostics and Therapy

基　　金：国家自然科学基金(30900658);教育部博士点新青年基金(20090181120109);四川大学校青年基金(2008095)

摘　　要：目的检测四川汉族人群HLA-A、-B、-DRB1位点基因多态性,获得完整、准确的四川汉族HLA分子遗传学数据。方法应用PCR-SSP技术对1 877名四川汉族健康人群进行HLA-A、-B、-DRB1位点基因分型。结果四川汉族人群中共检出HLA-A等位基因16个,HLA-B等位基因37个,HLA-DRB1等位基因14个。其中最常见的HLA-A等位基因为A*11、A*02、A*24,基因频率分别为31.3%、29.4%、18.6%;HLA-B常见的等位基因为B*40、B*46、B*15,基因频率分别为16.9%、13.7%、13.1%;HLA-DRB1常见的等位基因为DRB1*09、DRB1*12、DRB1*04,基因频率分别为17.1%、13.8%、13.0%。结论四川汉族人群HLA-A、-B、-DRB1基因具有显著多态性,大样本的DNA分型有助于HLA低频率基因的检出。Objective To analyze the polymorphism of HLA-A, -B, and -DRB 1 in Han population of Sichuan province and obtain more comprehensive and accurate molecular genetic datas of HLA gene. Methods Polymerase chain reaction-sequence specific primer （PCR-SSP） were used to determine the HLA-A, -B, and -DRB 1 alleles in 1877 unrelated healthy Han individuals in Sichuan province. Results 16 HLA-A, 37 HLA-B and 14 HLA-DRB 1 alleles were detected in this study. The most prevalent HLA-A alleles were A＊ 11, A＊02 and A＇24, with a gene frequency of 31.3%, 29.4% and 18.6% respectively. The most prevalent HLA-B alleles were B＊40, B＇46 and B＊15, with gene frequency of 16.9% , 13.7% and 13.1% respectively. The most prevalent HLA-DRB1 alleles were DRB1 ＊09, DRB1 12 and DRBI＊04, with gene frequency of 17.1%, 13.8% and 13.0% respectively. Conclusion HLA-A, -B , and -DRB 1 alleles in Han population of Sichuan are high polymorphic. Large scale DNA genotyping contributes to the detection of low frequency HLA alleles.

关 键 词：HLA 基因 多态性 

分 类 号：R394[医药卫生—医学遗传学]