CAJ | 학술논문

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。
목적：료해동완지구인군 G6PD 결핍적류행특정，위본지구제공 G6PD 결핍증기인돌변、기인형급표형자료，완선본지구기인돌변보，병위제정본지구 G6PD 결핍증적예방계화제공유개치적삼고。방법수집2010년1월지2012년12월재아원진행체검적남성외주혈양본，채용 G6PD/6PGD 비치법진행사사，기록기 G6PD/6PGD 비치법검측결과，G6PD/6PGD＜l．5학진위 G6PD 결핍，양성양본채용 PCR-RDB 진행기인진단，동시수궤추취50례음성양본작위대조조진행기인진단。계산질병검출솔、기인돌변、기인형빈솔화기인구성비。결과3885례양본중공검출302례표형양성적 G6PD 결핍증환자，검출10충기인돌변화1충다태성위점，감정출12충기인형，령유3례양품미발현 PCR-RDB 검측적17충돌변류형。50례음성양본진행기인진단균위음성。동완시남성인군 G6PD 결핍표형양성적군체검출솔시7．77％，17충상견돌변기인휴대솔시7．70％，각충돌변류형적구성비의차위 G1376T（32．8％）、G1388A（34．1％）、A95G（12．4％）、G871A （3．7％）、G392T（3．7％）、C1024T（3．3％）。결론본연구천술료동완지구G6PD 결핍적인군발생솔화상세적기인돌변보화돌변빈솔，연구자료위재해지구제정유효가행적 G6PD 결핍예방계화제공유개치적삼고。
Objective To explore the epidemiological characteristics of population with G6PD deficiency in Dong-guan area,and provide data of G6PD deficiency gene mutations,genotype and phenotype information of local area,per-fect 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 valua-ble reference for making G6PD deficiency prevention programs.