42例广东籍重型β-地中海贫血与HLA-DQB1*等位基因的相关性分析

Association of the Relationship between HLA-DQB1* Alleles and Major β-Thalassemia in 42 Guangdong Chinese

为探讨HLA DQB1 位点与 β 地中海贫血的相关性 ,应用聚合酶链反应 序列特异引物 (PCR SSP)方法对4 2例无血缘关系的广东籍汉族重型 β 地中海贫血患者进行HLA DQB1 分型 ,同时随机检测 4 5例广东籍正常人群作为对照。结果发现HLA DQB1 0 6位点等位基因在 β 地中海贫血患者群体中频率为 19.0 % ,而对照组为4 .4 % ,两组有显著性差异 (χ2 =8.96 1,P <0 .0 1)。结论提示HLA DQB1 0 6等位基因与广东地区 β

To investigate the relationship between HLA DQB1* alleles and major β thalassemia, the HLA DQB1* loci typing was performed with polymerase chain reaction sequence specific primer(PCR SSP) in 42 unrelated (unconsanguineous) patients with major β thalassemia and 45 normal control individuals in Guangdong Province. Results showed that the frequence of HLA DQB1*06 allele in patient group (19.0%) was higher than that in the control group(4.4%)(χ 2= 8.961, P<0.01). Our data suggest that HLA DQB1*06 allele is associated with pathogenesis of the major β thalassemia in Guangdong area.