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| 变性高效液相色谱检测5,10-亚甲基四氢叶酸还原酶基因677(C/T)多态 | |
| 引用本文： | 李才明,张成,卢锡林,冯慧宇,苏全喜,曾缨,张鸿炼,邱淑莲. 变性高效液相色谱检测5,10-亚甲基四氢叶酸还原酶基因677(C/T)多态[J]. 中华医学遗传学杂志, 2006, 23(2): 184-185 |
| 作者姓名： | 李才明 张成 卢锡林 冯慧宇 苏全喜 曾缨 张鸿炼 邱淑莲 |
| 作者单位： | 1. 516001,广东省惠州市中心人民医院神经科 2. 中山大学第一附属医院神经科 3. 广东药学院第一附属医院神经科 4. 516001,广东省惠州市中心人民医院药理室 |
| 基金项目： | 国家自然科学基金（30370510,30170337）;纽约中华医学基金会基金（CMB,98-667）;广东省卫生厅医学基金（B2002124.B2005134） |
| 摘 要： | 目的建立快速、准确的筛查5，10-亚甲基四氢叶酸还原酶基因（methylenetrahydrofolate reduclase gene，MTHFR）677（C／T）多态的方法。方法MTHFR扩增后，应用变性高效液相色谱进行检测，用测序和酶切验证。结果对334名南方汉族人的MTHFR的677（C／T）多态进行了检测，准确率达99％以上，灵敏度高，突变的检出率达100％。CC、CT、TT基因型的频率分别为56．9％、38．3％和4．8％，T、C等位基因的频率分别为23．95％和76．05％。结论变性高效液相色谱法能快速、准确地检测MTHFR的677（C／T）多态。MTHFR的677（C／T）多态存在地区和种族差异。 |
| 关 键 词： | 5 10-亚甲基四氢叶酸还原酶基因 遗传多态性 变性高效液相色谱 |
| 收稿时间： | 2005-08-20 |
Detecting the polymorphism of methylenetetrahydrofolate reductase gene by denaturing high performance liquid chromatography |
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| LI Cai-ming,ZHANG Cheng,LU Xi-lin,FENG Hui-yu,SU Quan-xi,ZENG Ying,ZHANG Hong-lian,QIU Shu-lian. Detecting the polymorphism of methylenetetrahydrofolate reductase gene by denaturing high performance liquid chromatography[J]. Chinese journal of medical genetics, 2006, 23(2): 184-185 | |
| Authors: | LI Cai-ming ZHANG Cheng LU Xi-lin FENG Hui-yu SU Quan-xi ZENG Ying ZHANG Hong-lian QIU Shu-lian |
| Affiliation: | 1 Department of Neurology, Huizhou Central Hospital, Huizhou , Guangdong , 516001 P. R . China ; 2 Department of Neurology, the First Affiliated Hospital, Sun Yat-sun University, Guangzhou, Guangdong , 510080 P. R . China ; 3 Department of Neurology, the First Affiliated Hospital, Guangdong Pharmaceutical University, Guangzhou, Guangdong , 510080 P. R. China; 4 Department of Pharmacy, Huizhou Central Hospital, Huizhou, Guangdong, 516001 P. R. China |
| Abstract: | Objective To establish a method for detecting the polymorphism of methylenetetrahydrofolate reductase gene (MTHFR). Methods The MTHFR was amplified, and the amplified products were detected by denaturing high performance liquid chromatography (DHPLC), and the amplified MTHFR was confirmed by sequencing and restriction enzyme digesting. Results A total of 334 individuals of Han people in southern China were recruited in our study, and their polymorphisms of MTHFR were detected. The accurate rate of the DHPLC method, that was very sensitive with 100% detection rate available, was over 99%. The frequencies of CC, CT and TT genotypes were 56.9%, 38.3%and 4.8% individually, and the frequencies of T and C alleles were 23.95%and 76.05% individually. Conclusion The DHPLC method can detect polymorphism of MTHFR rapidly, effectively and economically. And there is the existence of different MTHFR polymorphisms in area and race. |
| Keywords: | methylenetetrahydrofolate reductase gene genetic polymorphism denaturing high performanceliquid chromatography |
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