中国西藏藏族人群HLA-A/B/DRB1座位基因遗传多态性和单体型分析  

Allelic diversity and haplotype frequencies of HLA-A,B,DRB1 loci in Tibet population of China

作　　者：刘孟黎[1] 齐珺[1] 沈春梅[1] 刘晟[1] 王小芳[1] 

机构地区：[1]陕西省血液中心,陕西西安710061

出　　处：《中国输血杂志》2011年第2期96-100,共5页Chinese Journal of Blood Transfusion

摘　　要：目的分析西藏藏族HLA-A/B/DRB1座位基因遗传多态性和单体型特征。方法采用PCR-SSO Lumi-nex流式磁珠分型方法对343名西藏藏族无关个体作HLA-A/B/DRB1座位基因分型,应用直接计数法统计基因频率和最大数学预期值算法估计HLA双座位和三座位单体型频率。结果检出HLA-A座位基因13个,A*02(GF=30.47%)、A*24(GF=29.74%)和A*11(GF=12.83%);B座位基因24个,高频基因为B*51(GF=19.68%)、B*15(62)(GF=13.41%)和B*40(61)(GF=12.54%);DRB1座位基因13个,高频基因为DRB1*04(GF=24.49%)、DRB1*08(GF=17.49%)和DRB1*11(GF=14.87%);与中国宁夏回族、内蒙古蒙古族和中国汉族人群相比,高频基因分布均存在差异且具统计学意义(P=0.0000)。观察到HLA-A-B-DR三座位单体型247种,占单体型理论总数的32.89%;观察到HLA双座位单体型A-B、A-DR、B-DR分别为113、82、126种,占单体型理论总数的60.43%、72.57%和64.62%。A11-B15(HF=0.15%,RLD=100%)、A31-B75(HF=0.15%,RLD=100%)A3-B63(HF=0.15%,RLD=100%)存在强连锁不平衡;B18-DR4(HF=0.29%,RLD=100%),B15-DR4(HF=0.15%,RLD=100%),B75-DR15(HF=0.15%,RLD=100%)存在强连锁不平衡。结论中国西藏藏族的HLA-A/B/DRB1座位上的等位基因无论在基因频率分布、单体型频率分布以及连锁不平衡参数都具有自己的多态性特征。Objective To investigate the human leukocyte antigen（HLA）-A,B,DRB1 alleles and haplotype frequencies and the distribution characteristics in Tibet population of China.Methods HLA genotype data of 343 unrelated Tibetans were identified by PCR-SSO Luminex.HLA-A,B,DRB1 allele and haplotype frequencies were calculated by computer software named Arleguin which was based on Expectation-Maximization（EM） algorithms.Results 13,24 and 13 specificities of HLA alleles were identified on the HLA-A,B,and DRB1 loci,respectively.The most frequent alleles were A＊02（30.47%）,A＊24（29.74%）,and A＊11（12.83%） at the HLA-A locus,B＊51（19.68%）,B＊15（62）（13.41%）,and B＊40（61）（12.54%） at the HLA-B locus and DRB1＊04（24.49%）,DRB1＊08（17.49%）,and DRB1＊11（14.87%） at HLA-DRB1 locus.There were significant differences in the most frequent allelic distribution of HLA-A,B,DRB1 between Tibetan and Ningxia Hui,Mongol and Han ethnics（P=0.0000）.A total of 247 kinds of HLA-A-B-DR haplotypes（with a theoretical frequency of 32.89%）,113 kinds of HLA-A-B haplotypes,82 kinds of A-DR and 126 kinds for B-DR haplotypes were obtained,with a theoretical frequency of 60.43%,72.57% and 64.62%,respectively.HLA-A11-B15（HF=0.15%,RLD=100%）,A31-B75（HF=0.15%,RLD=100%）,A3-B63（HF=0.15%,RLD=100%）,B18-DR4（HF=0.29%,RLD=100%）,B15-DR4（HF=0.15%,RLD=100%） and B75-DR15（HF=0.15%,RLD=100%） showed significant positive linkage disequilibrium.Conclusion HLA-A,B,and DRB1 gene and haplotype frequencies and linkage disequilibrium data of Tibeten ethnic population,different from Ningxia Hui,Mongol and Han ethnics,present their own characteristics.

关 键 词：HLA抗原 HLA基因 单体型频率 遗传多态性 藏族 中国西藏 

分 类 号：R457.1[医药卫生—治疗学]