| 中国人两种常见G6PD基因突变型的酶活性研究 |
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| 引用本文： | 陈运生,李长钢,陈小文,刘磊,马东礼,徐刚,蒋纬莹.中国人两种常见G6PD基因突变型的酶活性研究[J].中国热带医学,2007,7(5):666-668. |
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| 作者姓名： | 陈运生 李长钢 陈小文 刘磊 马东礼 徐刚 蒋纬莹 |
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| 作者单位： | 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 |
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| 基金项目： | 深圳市科技计划重点项目(200601004) |
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| 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。
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| 关 键 词： | 葡萄糖-6-磷酸脱氢酶 基因 突变 |
| 文章编号： | 1009-9727（2007）5-666-03 |
| 修稿时间： | 2006-03-10 |
Study on the enzymatic activity of G6PD G1388A and G1376T common gene in China. |
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| CHEN Yun-sheng, LIU Lei, LI Chang- gang,et al..Study on the enzymatic activity of G6PD G1388A and G1376T common gene in China.[J].China Tropical Medicine,2007,7(5):666-668. |
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| Authors: | CHEN Yun-sheng LIU Lei LI Chang- gang |
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| Institution: | CHEN Yun-sheng, LIU Lei, LI Chang- gang, et al. |
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| Abstract: | Objective To investigate the enzymatic activity of G6PD 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 G6PD was determined by means of G6PD/6PGD ratio assay. Results The enzymatic activity of G6PD G1388A group in 34 male Chinese cases was higher significantly than that of G1376T in 41 male Chinese people. Conclusion The enzymatic activity of G6PD influenced by the mutation of G6PD G1376T is more than that of G1388A in male Chinese and the enzymatic activity of G1376T group is less significantly than G1388A group. |
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| Keywords: | Glucose-6-Phosphate Dehydrogenase Gene Mutation |
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