中国人两种常见G6PD基因突变型的酶活性研究  

Study on the enzymatic activity of G6PD G1388A and G1376T common gene in China.

作　　者：陈运生[1] 李长钢[1] 陈小文[1] 刘磊[1] 马东礼[1] 徐刚[1] 蒋纬莹[2] 

机构地区：[1]深圳市儿童医院血液室,广东深圳518026 [2]中山大学中山医学院遗传教研室,广东广州510080

出　　处：《中国热带医学》2007年第5期666-668,共3页China Tropical Medicine

基　　金：深圳市科技计划重点项目(200601004)

摘　　要：目的研究中国人两种常见G6PD基因突变型G1388A和G1376T的酶活性。方法应用聚合酶链反应(Polymerase chain reaction,PCR)、变性梯度凝胶电泳(Denaturing gradient gel electrophoresis,DGGE)技术和DNA测序技术确定标本的基因型。通过G6PD/6PGD比值法检测酶活性。结果34例男性G1388A突变组G6PD活性显著高于41例男性G1376T突变组(P<0.01)。结论G1376T突变比G1388A突变更能影响G6PD酶活性,G1376T突变组酶活性较G1388T组更低。Objective To investigate the enzymatic activity of C,6PD G1388A and G1376T in Chinese people. Methods The mutations of G6PD gene in Chinese people were investigated with polymerase chain reaction （PCR）, denature gradient gel eletrophoresis （DGGE） and DNA sequencing technologies. In addition, the enzymatic activity of C,6PD was determined by means of G6PD/6PGD ratio assay. Results The enzymatic activity of C,6PD G1388A group in 34 male Chinese cases was higher significantly than that of G1376T in 41 male Chinese people. Conclusion The enzymatic activity of C,6PD influenced by the mutation of C,6PD G1376T is more than that of G1388A in male Chinese and the enzymatic activity of G1376T group is less significandy than G1388A group.

关 键 词：葡萄糖-6-磷酸脱氢酶 基因 突变 

分 类 号：R596[医药卫生—内科学]