内科

目的分析广西梧州籍汉族α-地中海贫血患者人类白细胞抗原（HLA）-A、B在高分辨基因分型水平上的等位基因多态性和单倍型的分布特征。方法采用聚合酶链反应-直接测序分型法（PCR-SBT），对广西梧州籍汉族117例α-地中海贫血患者的HLA-A、B位点进行高分辨基因分型，用直接计数法计算等位基因频率，应用Arlequin V3.5软件，以最大似然法分析单倍型频率。结果在117例α-地中海贫血患者中共检出高分辨HLA-A等位基因17个，HLA-B等位基因33个。A位点等位基因频率最高的是A*11:01 （27.35%），B位点等位基因频率最高的是B*40:01（15.38%）和B*46:01（14.96%）。频率最高的HLA-A-B单倍型有A*33:03-B*58:01（11.49%）、A*02:07-B*46:01 （8.33%）、A*11:01-B*40:01（6.34%）。连锁不平衡最显著的单倍型是A*33:03-B*58:01、A*02:07-B*46:01、A*74:02-B*51:01、A*02:03-B*38:02、A*11:02-B*27:04。结论广西梧州籍汉族α-地中海贫血患者HLA-A、B等位基因具有较高的多态性，其双座位单倍型具有地区性遗传特征。

ObjectiveTo analyze the allele high-resolution polymorphism and haplotypes of HLA-A and B in the patients with α-thalassemia from Wuzhou Han population.MethodsPolymerase chain reaction-sequence-based typing (PCR-SBT) was used to analyze high-resolution genotyping of HLA-A and B among 117 patients with α-thalassemia of Han ethnic in Wuzhou city,Guangxi province.The alleles frequencies were estimated by direct counting,and the haplotype frequencies were analyzed by maximum likelihood using Arlequin 3.5.Results17 alleles for HLA-A and 33 alleles for HLA-B were found among 117 patients with α-thalassemia.The most common alleles of site A were A*11:01 (27.35%), while site B were B*40:01 (15.38%) and B*46:01 (14.96%).The highest frequency of HLA-A-B haplotype were A*33:03-B*58:01(11.49%),A*02:07-B*46:01(8.33%) and A*11:01-B*40:01(6.34%).The strongest linkage disequilibrium haplotypes were A*33:03-B*58:01,A*02:07-B*46:01, A*74:02-B*51:01, A*02:03-B*38:02,and A*11:02-B*27:04.ConclusionHLA-A and B loci were highly polymorphic in patients with α-thalassemia from Wuzhou Han population.The haplotype distribution exhibits geographic genetic characteristics.