一个重型β地中海贫血家系中的β珠蛋白基因变异

Beta-globin gene variation in a family with severe beta thalassemia

用DNA序列测定技术检测云南 1个重型 β地中海贫血病例的家系中 β珠蛋白基因变异 ,确定基因型并预测发病风险。结果显示 :该家系中存在 5种 β珠蛋白基因变异 ,除IVS - 2nt6 5 4(C→T)外 ,首次发现 β地贫病例中存在TATAbox -31(A→C)和IVS - 2nt749(C→T)突变及两者组成的基因型 ;在中国人中发现Code 2 (CAC→CAT) ,IVS - 2nt6 6 6 (T→C)多态位点和基因型 ,并推测 - 31(A→C)突变表型是 β+ 。

TheTo detect beta-globin gene variation of a family which one of cases with severe beta thalassemia in Yunnan province by using DNA sequencing, and to identify their genotype and forecast the risk of this disease in filial generation. Five point mutations of beta-globin gene in this family have been identified. The results that there are the -31 (AC),IVS-2 nt749(CT) mutations and the allele constituted by both of them in patients with beta thalassemia are first reported, and the founding that there are Code 2(CACCAT), IVS-2 nt 666(TC) and the allele constituted by both of them has not been reported in Chinese previously. The clinic symptom suggests that maybe the phenotype of -31 (AC) mutation is beta(+).