皖南地区汉人亚甲基四氢叶酸还原酶基因型的检测  

Determination of Methylenetetraphydrofolate Reductase Genotypes of the Residents of Han Nationality in South Anhui by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism

作　　者：杨本海[1] 刘永忠[1] 

机构地区：[1]皖南医学院附属弋矶山医院临床医学研究所,241001

出　　处：《皖南医学院学报》2001年第4期308-309,共2页Journal of Wannan Medical College

摘　　要：目的　建立聚合酶链反应 限制性片段长度多态性技术 (PCR RFLP) ,分析皖南地区汉人亚甲基四氢叶酸还原酶 (MTHFR)基因型。方法　利用该基因 6 77碱基T替换C具有TagⅠ酶多态性 ,采用PCR RFLP结合银染技术分析皖南地区汉人MTHFR基因型。结果　皖南地区汉人MTHFR基因型频率分别为 :AA 34 5 5 % ,AV38 18% ,VV 2 7 2 7% ;等位基因A的频率为 5 3 6 4% ,等位基因V的频率为 46 36 %。结论　皖南地区汉人MTHFR等位基因频率与日本人比较具有极显著差异 ,与法籍加拿大人比较无差异。Objective To establish a simple and rapid method of polymerase chain reaction(PCR) and restriction fragment length polymorphism(RFLP) to analyse methylenetetrahydrofolate reductase(MTHFR) genotypes of the residents of Han nationality in South Anhui. Methods The polymorphism site at nucleotide 677(C677T) with Tag Ⅰ in MTHFR gene was analysed by using PCR-RFLP in the said residents.Results The frequencies of the MTHFR genotypes in South Anhui residents are AA:34.55%,AV:38.18% and VV:27.27% respectively; the allele frequency of A is 53.64%, the allele frequency of V is 46.36%.Conclusion Highly significant difference was found in allele frequency distribution between South Anhui residents and Japanese; but when compared with French Canadian, no significant difference was detected. =

关 键 词：皖南地区 汉人 亚甲基四氢叶酸还原酶 基因型 检测 聚合酶链反应-限制性片段长度多态性技术 等位基因 

分 类 号：R394[医药卫生—医学遗传学]