[1]陈芳),王艳),许予明),等.河南汉族人群亚甲基四氢叶酸还原酶基因多态性检测*[J].郑州大学学报(医学版),2009,(02):317-320.
 CHEN Fang),WANG Yan),XU Yuming),et al.Polymorphisms of MTHFR among Han population in Henan area[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2009,(02):317-320.
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河南汉族人群亚甲基四氢叶酸还原酶基因多态性检测*()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2009年02期
页码:
317-320
栏目:
论著
出版日期:
2009-03-01

文章信息/Info

Title:
Polymorphisms of MTHFR among Han population in Henan area
作者:
陈芳1)王艳2)许予明3)郑红4)#宋波3)贺颖4)齐华4)谈颂3)
1)焦作市人民医院神经内科焦作4540002)郑州大学第一附属医院普外科郑州4500523)郑州大学第一附属医院神经内科郑州4500524)郑州大学基础医学院细胞生物学与医学遗传学教研室郑州450001
Author(s):
CHEN Fang1)WANG Yan2)XU Yuming3)ZHENG Hong4)SONG Bo3)HE Ying4)Qi Hua4)TAN Song3)
1)Department of Neurology,the People's Hospital,Jiaozuo 4540002)Department of Surgery,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 4500523)Department of Neurology,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 4500524)Department of Cell Biology and Medical Benetics,College of Baisic Medical Sciences,Zhengzhou University,Zhengzhou 450001
关键词:
亚甲基四氢叶酸还原酶基因多态性
Keywords:
MTHFRgenetic detectionpolymorphism
分类号:
Q347
摘要:
探讨河南地区汉族人N5,10亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C位点的遗传多态性。方法:应用PCR限制性片段长度多态性(RFIP)和TaqManMGB探针PCR方法调查河南地区495个汉族人的基因型分布,并同文献比较。结果:677T等位基因频率为45%,TT纯合子频率为27%;1298C等位基因频率为11%,CC纯合子频率为1%;双杂合子CT/AC频率为12%,2个位点的遗传多态性与文献报道不同。结论:MTHFR基因多态性的分布具有种群和地域差异。
Abstract:
To find out C677T and A1298C polymorphism of MTHFR among Han population in Henan area.Methods:C677T and A1298C polymorphism of MTHFR in 495 Han people in Henan area were detected by PCRRFLP and TaqMan minor groove binding probes PCR genotyping method.Results: The allele frequencies of 677T and 1298C were 45% and 11%, respectively, and the homozygote frequencies of TT and CC were 27% and 1%, respectively.The frequence of combined heterozygosity for CT/AC mutations was 12%.The two genetic polymorphism of MTHFR from our study were different from those previously reported by others.Conclusion: The two MTHFR polymorphism may due to the differences of population and geography.

参考文献/References:

[1]Rady PL,Szucs S,Grady J,et al.Genetic polymorphisms of methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR) in ethnic populations in Texas:a report of a novel MTHFR polymorphic site,G1793A[J].Am J Med Genet,2002,107(2):162
[2]Weisherg IS,Jaeques PF,Selhub J,et al.The 1298AC polymorphism in methylenetetrahydrofolate reductase (MTHFR):in vitro expression and association with homocystein[J].Atherosclerosis,2001,156(2):409
[3]孙文萍,万琪,苏明权.西安地区汉族亚甲基四氢叶酸还原酶的两种基因多态性[J].第四军医大学学报,2003,24(7):634
[4]Giusti B,Gori AM,Marcucci R,et al.Role of C677T and A1298C MTHFR, A2756G MTR and 786 C/T eNOS gene polymorphisms in atrial fibrillation susceptibility[J].PLoS ONE,2007,2(6):e495
[5]Klling K,Ndrepepa G,Koch W,et al. methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms,plasma homocysteine,folate,and vitamin B12 levels and the extent of coronary artery disease[J].Am J Cardial,2004,93(10):1 201
[6]Kumar J,Das SK,Sharma P,et al. Homocysteine levels are associated with MTHFR A1298C polymorphism in Indian population[J].Am J Hum Genet,2005,50(12):655
[7]Ouerhani S,Oliveira E,Marrakchi R,et al. Methylenetetrahydrofolate reductase and methionine synthase polymorphisms and risk of bladder cancer in a Tunisian population[J].Cancer Genet Cytogenet,2007,176(1):48

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备注/Memo

备注/Memo:
*河南省高校杰出人才创新工程基金资助项目2005KYCX02;河南省杰出青年科学基金资助项目0612001300 #通讯作者,女,1968年生,博士,教授,研究方向:医学遗传学,Email:hzheng@zzu.edu.cn
更新日期/Last Update: 2010-05-17