广西地区地中海贫血合并G6PD缺乏症患儿G6PD基因突变型的初步研究

A preliminary study of glucose-6-phophate dehydrogenase (G6PD) gene mutations in thalassaemic children with G6PD deficiency in Guangxi

目的了解广西地区地中海贫血合并葡萄糖6磷酸脱氢酶(G6PD)缺乏症患儿G6PD基因突变的类型。方法采用自然或错配引物介导的聚合酶链反应(PCR)/限制性内切酶分析,检测11例地中海贫血合并G6PD缺乏症患儿G1388A、G1376T和A95G三种G6PD基因突变类型。结果11例地中海贫血合并G6PD缺乏症患儿中,检出G1388A突变4例,G1376T突变3例,A95G突变1例,未定型3例。结论广西地区地中海贫血合并G6PD缺乏症与单纯的G6PD缺乏症的基因突变型比较差异不明显,推测地中海贫血患儿的G6PD缺陷可能是原发性改变。婚前检查及产前诊断对减少地中海贫血合并G6PD缺乏症患儿的出生具有十分重要的意义。

Objectives To study glucose-6-phosphate dehydrogenase （G6PD） gene mutations in thalassaemic children with G6PD deficiency. Methods DNA samples of 11 thalassaemic children with G6PD deficiency were analyzed for the three commonly reported mutations （G1388A, G1376T, A95G） using natural primers or mis-matched primers mediated PCR followed by restriction endonuclease analysis. Results Among all the ll cases, G1388A mutation was found in 4 cases, G1376T in 3 cases, A95C, in 1 case and the genotype for the remaining 3 cases was inconclusive. Up to 72.72 % （8/11） of the thalassemic children were identified to have one of the three gene mutations including GI388A, G1376T and A95G. This frequency is not significantly different from children with gene mutation in G6PD deficiency alone. Hence, it is suggestive that the G6PD deficiency in children with thalassaemia is of primary origin but not associated with thalassaemia. Conclusions Premarital counseling and antenatal diagnosis are important measures to decrease the birth-rate of children with both thalassaemia and G6PD deficiency.