| 海南黎族人群葡萄糖-6-磷酸脱氢酶C1311T多态性分析 |
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| 引用本文： | 王颖,杜杰,蔡望伟.海南黎族人群葡萄糖-6-磷酸脱氢酶C1311T多态性分析[J].中国热带医学,2011,11(6):722-724. |
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| 作者姓名： | 王颖 杜杰 蔡望伟 |
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| 作者单位： | 海南医学院生物化学与分子生物学教研室,海南,海口,571101 |
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| 基金项目： | 海南省重点科技项目(081014); 海南省自然科学基金项目(80557); 海南医学院重点学科支持项目 |
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| 摘 要： | 目的通过对海南黎族人群葡萄糖-6-磷酸脱氢酶（G6PD）基因C1311T多态性分析，进-步理解海南黎族人群G1376T和G1388A突变遗传背景。方法运用硝基四氮唑蓝定量法对海南黎族男性全血标本进行筛查，随机选取无关海南黎族萄糖-6-磷酸脱氢酶缺乏症和正常标本各50份，PCR扩增G6PD外显子11至13序列并测序。结果筛查出海南黎族男性G6PD缺乏86例。在50例G6PD缺乏症的标本中，检出27例G1376T突变、12例G1388A突变和3例G6PDeDNAC1311T突变。在50例海南黎族正常标本中，检出12例G6PDeDNAC1311T突变。全部G6PDeDNAC1311T突变标本均合并IVS-11T93C突变，但未观察到G6PDC1311T合并其他突变。结论C1311T同义突变在海南黎族人群中是普遍存在，C1311T突变与IVS-11T93C突变可能是在较早的-次突变中同时产生的，但与G1376T突变或G1388A突变可能存在不同起源。
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| 关 键 词： | 葡萄糖-6-磷酸脱氢酶 海南黎族 cDNA C1311T突变 多态性分析 |
Analysis of polymorphism of G6PD cDNA C1311T in Li ethnic group in Hainan Province |
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| WANG Ying,DU Jie,CAI Wang-wei.Analysis of polymorphism of G6PD cDNA C1311T in Li ethnic group in Hainan Province[J].China Tropical Medicine,2011,11(6):722-724. |
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| Authors: | WANG Ying DU Jie CAI Wang-wei |
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| Institution: | WANG Ying,DU Jie,CAI Wang-wei.(Department of Biochemistry,Hainan Medical College,Haikou 571101,Hainan,P. R. China) |
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| Abstract: | Aim To further understand the genetic background of G1376T and G1388A mutation by studying a G6PD polymorphic loci,cDNA C1311T in Li ethnic group in Hainan Province.Methods The male whole blood specimens were screened using Nitrotetrazoliurn blue method by selecting 50 speciemens with G6PD deficiency and 50 normal specimens randomly,G6PD from the 11th to 13th exons was amplified by using polymerase chain reaction(PCR) and sequenced.Results There 86 cases with G6PD deficiency were screened out and among 50 c... |
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| Keywords: | Glucose-6-phosphate dehydrogenase Li ethnic groupl Hainan Province cDNA C1311T mutation Polymorphism |
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