G6PD缺乏症患儿地中海贫基因缺陷的检测

Detection of the globin gene defect in G6PD deficiency children

[目的]了解合并地中海贫血(地贫)的G6PD缺乏症患儿珠蛋白基因缺陷类型。[方法]硝基四氮唑蓝(NBT)定量法测定红细胞G6PD／6PGD值筛选G6PD缺乏症;裂口PCR(gap-PCR)检测东南亚缺失型α地贫,PCR结合反向点杂交(RDB)技术检测β地贫。[结果]有25例G6PD缺乏症患儿合并有地贫,其中东南亚缺失型α地贫11例,占 44％;β地贫14例,占56％,基因型分别为IVS2nt654 6例(占24％),CD41-42 4例(16％),CD71-72、βE、IVSgnt654／CD41- 42、--／αα／IVS2nt654／IVS2nt654各1例(4％)。[结论]合并地贫血的G6PD缺乏症患儿珠蛋白基因缺陷类型多样,但 G6PD缺乏症与地贫不同基因型之间并无明显的相关性。

[Objective] To identify the globin gene type of G6PD deficiency children accompanied with thalassemia. [Methods] G6PD deficiency was screened by G6PD/6PGD which was quantified by NBT; By gap-PCR, SEA deletion a thalassemia was examined, and using reverse dot hybridize（RDB） followed by PCR, β globin gene mutation was detected. [Results] 25 G6PD deficiency cases were confirmed to be accompanied with globin gene defect, among which 11 cases （44%） had a gene deletion;14 cases（56%） had β globin mutation, the gene types were IVS2nt654 （24%）, CD41-42 （ 16%） ,CD71-72 （ 4% ）, βE（ 4 %） , IVS2nt654/CD41-42 （ 4% ） ,-/αα/IVS2nt654/IVS2nt654 （ 4% ） respectively. [Conclusion] The globin gene types in G6PD deficiency children are multifarious, but there is no obvious relationship between G6PD deficiency and the different globin gene types.