MTHFR基因A1298C多态与缺血性脑血管病的相关性  

Study on correlation between the MTHFR A1298C morphisms and ischemic cerebravascular disease

作　　者：陈芳[1] 封青川[2] 郑红[2] 宋波[3] 贺颖[2] 连建华[2] 齐华[2] 谈颂[3] 许予明[3] 

机构地区：[1]河南焦作市人民医院神经内科,焦作454000 [2]郑州大学基础医学院细胞生物与遗传学教研室,郑州450052 [3]郑州大学医学院附属第一医院神经内科,郑州450052

出　　处：《中国实用神经疾病杂志》2010年第18期1-4,共4页Chinese Journal of Practical Nervous Diseases

摘　　要：目的研究亚甲基四氢叶酸还原酶(MTHFR)A1298C突变与缺血性脑血管病发病的相关性。方法选取病例组470例,对照组495例,利用TaqMan-MGB探针PCR基因分型方法进行基因分型。结果病例组A1298C突变的C等位基因频率为13.1%,对照组为11.2%,2组相比较差异无统计学意义(χ2=1.588,P=0.208,OR=1.192,95%CI0.907～1.568);病例组与对照组A1298C多态基因型频率AA、AC、CC分别为75.3%、23.2%、1.5%及78.2%、21.2%、0.6%,AC型(χ2=0.547,P=0.459,OR=1.121,95%CI0.828～1.520)、AC+CC型(χ2=1.108,P=0.292,OR=1.174,95%CI0.871～1.584)A1298C突变在2组间的分布无明显差异。结论 MTHFR基因A1298C多态性的分布具有种群和地域差异,河南汉族人群A1298C突变与缺血性脑血管病无显著相关性。Objective To explore the correlation between the 5, 10-methylenetetrahydrofolate reductase （MTHFR） A1298C polymorphisms and ischemie cerebravascular disease（ICVD）. Methods This study involved 470 cases with ICVD （patient group） and 495 healthy subjects （control group）. TaqMan minor groove binding （MGB） probes genotyping method was used to detect A1298C genotype. Results The frequency of mutant A1298C Callele in the patients and control groups was 13.1 % and 11.2 % respectively（X^2= 1. 588,P=0. 208,OR= 1. 192, 95%CI 0. 907- 1. 568）,no significant difference was observed; The frequencies of A1298C polymorphisms genotype AA,AC,CC in the two groups were 75. 3%, 23. 2%, 1.5% and 78.2 %, 21.2 % and 0.6 %, respectively, no statistical difference of A1298C mutant AC genotype （X2= 0. 547, P = 0. 459,OR = 1. 121,95%CI 0. 828-1. 520）and AC＋ CC genotype（X^2 =1. 108, P= 0. 292, OR = 1. 174, 95% CI 0. 871 - 1. 584） was observed. Conclusion The A1298C polymorphisms of Henan Han arc different from peoples of other area which may due to the differences of population and geography. C allele frequency has failed to establish significant correlation with ICVD in Henan Han people.

关 键 词：缺血性脑血管病 甲基四氢叶酸还原酶 A1298C 遗传多态 

分 类 号：R743[医药卫生—神经病学与精神病学]