广西崇左市葡萄糖-6-磷酸脱氢酶缺乏症基因突变型研究

Research of the G6PD gene mutations in Chongzuo Guangxi

目的研究广西崇左市葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发生率及基因突变类型。方法对广西崇左市510例病例采用四氮唑蓝定量法筛查G6PD活性。对诊断为G6PD缺乏的病例采用PCR/限制性内切酶消化试验检测出G1376T、G1388A、A95G、G871A和C1024T 5种常见G6PD基因突变类型,用DNA直接测序法检测未确定突变类型的标本。结果在广西崇左市510名居民中筛查出52例G6PD缺乏症,其缺乏率为10.20%。在52例G6PD缺乏症标本中,检出G1376T突变14例、G1388A突变12例、A95G突变13例、G871A突变6例、C1024T突变1例,C1360T突变1例、C519T突变1例,未定型4例。结论 G6PD缺乏症在广西崇左市的发病率为10.20%。G1388A、G1376T、A95G也是广西崇左市G6PD缺乏症最常见的基因突变。发现G6PDUnion 1例,很可能属于零星分布。

Objective Investigating the occurrence of glucose-6-phophate dehydrogenase（G6PD） deficiency and researching the types and distribution of G6PD gene mutations in the Chongzuo Guangxi.Methods Nitroblue tetrazolium qualitation was used to detect G6PD deficiency in 510 neonates from Chongzuo Guangxi.G1376T、G1388A、A95G、G871A and C1024T were detected by using the natural primers and mis-matched primers mediated polymerase chain raction followed by endonuclease digestion methods.The other Unknown mutations were detected by DNA sequencing.Results 52 of the 510 blood samples （10.2%） were suspected to be G6PD deficient from People in the Chongzuo Guangxi.Among these 52 samples,eight types of mutations were revealed：14 cases with G1376T mutation,12 cases with G1388A mutation,13 cases with A95G mutation,6 cases with G871A mutations,1 case with C1024T mutation,1 case with C1360T,1 case with C519T,and 4 cases with unidentified.Conclusions The occurrence of G6PD deficiency in Chongzuo Guangxi was 10.2%.G1376T、G1388A and A95G were also the most three common gene mutations of G6PD deficiencies in Chongzuo Guangxi.1 case with G6PD Union were found,it may also be sporadic distribution.