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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16 464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。
Objective To understand the gene mutation types of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Dongguan and provide the basis for the clinical diagnosis and prevention of G6PD deficiency. Methods G6PD / 6-phosphogluconate dehydrogenase (6PGD) ratio was collected from patients who screened for G6PD activity. 469 phenotypic positive samples were randomly selected and detected by reverse dot blot hybridization (RDB) Mutation type. Results A total of 16 464 specimens were detected by the G6PD / 6PGD ratio method. 672 positive specimens (G6PD / 6PGD <1.0) were detected, with a detection rate of 4.08%. A total of 460 cases were detected in the random sample, and the detection rate was 98.1%. There were 173 G1376T mutations, 141 G1388A mutations, 82 A95G mutations, 60 G871A mutations, 23 G392T mutations and 14 C1024T mutations. Also detected in China G6PD rare mutation genotypes C1004T mutation in 6 cases, T517C mutation in 2 cases, C1360T mutation in 1 case; detected C1311T polymorphism in 65 cases and double heterozygous mutation in 96 cases. Conclusion The prevalence of G6PD deficiency in Dongguan is high. The G6PD gene mutation type is universally representative of the Chinese population, and has the heterogeneity of the region.