东莞地区 G6PD 缺乏症的分子流行病学研究

目的：了解东莞地区人群 G6PD 缺乏的流行特征，为本地区提供 G6PD 缺乏症基因突变、基因型及表型资料，完善本地区基因突变谱，并为制订本地区 G6PD 缺乏症的预防计划提供有价值的参考。方法收集2010年1月至2012年12月在我院进行体检的男性外周血样本，采用 G6PD/6PGD 比值法进行筛查，记录其 G6PD/6PGD 比值法检测结果，G6PD/6PGD＜l．5确诊为 G6PD 缺乏，阳性样本采用 PCR-RDB 进行基因诊断，同时随机抽取50例阴性样本作为对照组进行基因诊断。计算疾病检出率、基因突变、基因型频率和基因构成比。结果3885例样本中共检出302例表型阳性的 G6PD 缺乏症患者，检出10种基因突变和1种多态性位点，鉴定出12种基因型，另有3例样品未发现 PCR-RDB 检测的17种突变类型。50例阴性样本进行基因诊断均为阴性。东莞市男性人群 G6PD 缺乏表型阳性的群体检出率是7．77％，17种常见突变基因携带率是7．70％，各种突变类型的构成比依次为 G1376T（32．8％）、G1388A（34．1％）、A95G（12．4％）、G871A （3．7％）、G392T（3．7％）、C1024T（3．3％）。结论本研究阐述了东莞地区G6PD 缺乏的人群发生率和详细的基因突变谱和突变频率，研究资料为在该地区制订有效可行的 G6PD 缺乏预防计划提供有价值的参考。

Molecular Epidemiological Analysis of G6PD Deficiency in Dongguan Area

Objective To explore the epidemiological characteristics of population with G6PD deficiency in Dongguan area,and provide data of G6PD deficiency gene mutations,genotype and phenotype information of local area,perfect the gene mutation spectrum in this region,and provide valuable reference for formulate G6DP deficiency prevention programs.Methods The peripheral blood samples of male who took physical examination in our hospital from January 2010 to December 2012 were collected.We measured their G6PD activity,recorded the testing results of G6PD/ 6PGD ratio,take G6PD/6PGD 〈 l.5 as G6PD deficiency,then positive one was detected the mutations by reverse dot blot （RDB）assay.Calculate its disease detection,gene mutation,gene frequency and constituent ratio.Results 302 out of 3885 cases were phenotype positive,there are 10 gene mutations,1 polymorphism loci and 12 genotypes,other 3 cases were normal with the 17 types of mutations.The positive rate of G6PD deficiency phenotypic in Dongguan male was 7.77%,the proportion of 17 common mutations was 7.70%,the proportion of most common types of mutations were G1376T（32.8%）、G1388A（34.1%）、A95G（12.4%）、G871A （3.7%）、G392T（3.7%）、C1024T（3.3%）.Conclusion Our study analyzed the incidence rate,gene mutation frequency of G6DP deficiency in Dongguan area,and provide valuable reference for making G6PD deficiency prevention programs.