海南汉族、黎族人葡萄糖-6-磷酸脱氢酶缺乏症的基因突变

目的:阐明海南汉族、黎族人群中葡萄糖-6-磷酸脱氢酶缺乏症的分子基础。方法:用聚合酶链反应、限制性内切酶消化筛查了1388G→A、1376G→T、1360C→T、1024C→T、592C→T、517T→C、493A→G、487G→A、392G→T和95A→G突变;用单链构象多态性分析筛查其它突变;用核苷酸顺序分析鉴定具有SSCP异常区带样品的突变。结果:在59例汉族G6PD缺乏症患者中,发现1388G→A14例(23.7%)、1376G→T19例(32.2%)、871G→A3例(5.1%)、835A→T1例(1.7%)、517T→C1例(1.7%)、392G→T3例(5.1%)、95A→G4例(6.8%);在32例黎族G6PD缺乏症患者中,发现1388G→A6例(18.8%)、1376G→T18例(56.2%)、871G→A3例(9.4%)、95A→G2例(6.3%);结论:海南汉族、黎族人群中具有共同的常见G6PD基因突变型,提示一些G6PD基因突变是中国南方人群的遗传特征。

MOLECULAR CHARACTERIZATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY IN THE HAN AND LI NATIO NALITIES IN HAINAN, CHINA

Objective:To elucidate the molecular basis of G6PD deficiency in the Han and Li nationalities in Hainan,China.Methods :Polymerase chain reaction and restriction enzyme digestion were used to screen the mutations1388G→A,1376G→T,1360C→T,1024C→T,592C→T,517T→C,493A→G,487G→A,392G→T and95A→G.Single strand conformation polymorphism analysis was used to screen the other mutations following DNA sequencing to characterize the mutations of the samples with abnormal SSCP bands.Results:Of the fifty-nine Han cases of G6PD deficiency,fourteen with1388G→A(23.7%),nineteen with1376G→T(32.2%),three with871G→A(5.1%),one with835A→T(1.7%),one with517T→C(1.7%),three with392G→T(5.1%),and four with95A→G(6.8%)were found.Of the thirty-two Li cases of G6PD deficiency,six with1388G→A(18.8%),eighteen with1376G→T(56.2%),three with871G→A(9.4%)and two with95A→G(6.3%)were found.Conclusion:The most common mutations of G6PD deficiency in Han and Li nationalities are similar.The results indicated that some G6PD gene mutations are the genetic characteristic of the Southern population of China.