海南省新生儿葡萄糖-6-磷酸脱氢酶缺乏症的基因突变型分析

目的]通过对新生儿疾病筛查中确诊的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症患儿进行基因检测,确定海南省新生儿G6PD缺乏症的分子生物学基础.方法]通过荧光斑点法在新生儿群体中筛查出可疑或阳性者,经G6PD/6GPD比值法确诊.将G6PD缺乏症患儿静脉血做DNA直接扩增法(PCR)、PCR-等位基因特异的寡核苷酸探针(PCR-ASO)分析、PcR-限制性片段长度多态性(PCR-RFLP)分析和PCR-单链构型多态性(PCR-SSCP)分析,检测基因突变.结果]G6PD缺乏症新生儿51例中属于G1 376T的16例(31.37%)、属于G1 388A的11例(21.57%)、属于A95G的4例(7.84%)、属于G392T的2例(3.92%)、属于G871A的2例(3.92%)、属于A835T的1例(1.96%),属于T517C的1例(1.96%);余14例没有发现上述突变.结论]海南省新生儿G6PD缺乏症的基因突变型与我国该遗传病其他高发地区的基因突变谱相似;未发现A835G-G6PD-海口突变型.

Gene mutation type analysis of Glucose-6-Phosphate Dehydrogenate(G6PD) deficiency in Hainan newborn infants

Objective] To elucidate the molecular basis of G6PD deficiency in Hainan newborn infants through the gene detection and analysis of those who were diagnosed as G6PD deficiency infants by neonatal diseases screening.Mothods] The fluorescence spot test and G6PD/6PGD rate were used to G6PD patients,analysis of amplified DNA sequences,PCR combined with oligonucleotide probes,PCR restriction fragment length polymorphism,single strand conformation polymorphism analysis technique were used to screen the mutations.Results] Of the 51 newborn infants of G6PD deficiency,16 with G1 376T(31.37%),11 with G1 388A(21.57%),4 with A95G(7.84%),2 with G392T(3.92%),2 with G871A(3.92%),1 with A835T(1.96%)and 1 with T517C(1.96%)were found,but 14 with out these genotypies Conclusions] The gene mutation type of G6PD deficiency of newborn infants in Hainan is similar to the most common mutation type of G6PD deficiency in other areas,the A835G-G6PD of Haikou type has not been found.