东莞地区469例 G6PD 缺乏症基因突变类型分析

目的：了解东莞地区葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的基因突变类型，为 G6PD 缺乏症的临床诊断及预防提供依据。方法收集进行 G6PD 酶活性筛查的患者资料，记录其 G6PD/6-磷酸葡萄糖酸脱氢酶（6PGD）比值结果，随机抽取469例表型阳性样本，通过反向斑点杂交（RDB）技术检测其基因突变类型。结果采用 G6PD/6PGD 比值法共检测16464例标本，检出阳性标本672例（G6PD/6PGD＜1．0），检出率为4．08％。随机抽取样本中，检出基因突变460例，检出率为98．1％，其中G1376T 突变173例、G1388A 突变141例、A95G 突变82例、G871A 突变60例、G392T 突变23例、C1024T 突变14例；还检出中国地区 G6PD 少见突变基因型 C1004T 突变6例、T517C 突变2例、C1360T 突变1例；同时检出 C1311T 多态性65例和双重杂合突变96例。结论东莞地区 G6PD 缺乏症发生率较高，G6PD 基因突变类型具有中国人群普遍代表性，又有该地区的异质性。

Gene mutations detection in 469 patients with G6PD deficiency in Dongguan

Objective To explore the genotype of patients with glucose-6-phosphate dehydrogenas（G6PD）deficiency in Dong-guan and provide the basis for the clinical diagnosis and prevention.Methods The clinical data of patients who took G6PD activity screening in the hospital were collected from January 2011 to December 2013,the G6PD/6PGD ratios were recorded.469 patients with positive G6PD/6PGD ratio were randomly enrolled in the study,whose mutations were detected by reverse dot blot（RDB）as-say.Results During this period,we measured G6PD activity of 16 464 cases by G6PD/6PGD ratios,there were 672 positive cases, the positive rate was 4.08%.Randomly selected 469 positive samples,detected their genotye by RDB assay.We detected 173 cases of G1376T,141 cases of G1388A,82 cases of A95G,60 cases of G871A,23 cases of G392T,14 cases of C1024T.In addition to that, we also found some rare mutations,such as 6 cases of C1004T,2 cases of T517C,1 cases of C1360T.65 cases of C1311T gene poly-morphism and 96 cases of dual gene mutations were detected.Conclusion The incidence of G6PD deficiency is high and the gene mutation types in Dongguan are both representative for Chinese population and with local heterogeneity.The study on gene muta-tions of G6PD deficiency is benefit for diagnosis and prevention.