亚甲基四氢叶酸还原酶基因多态性与脑出血的关系  

The relationship between MTHFR gene polymorphism and cerebral hemorrhage

作　　者：张进[1] 陆磊[1] 施弘[1] 蒋青青[1] 翁青[2] 贾伟平 

机构地区：[1]上海交通大学附属第六人民医院神经内科,200233 [2]上海市糖尿病研究所

出　　处：《临床神经病学杂志》2004年第4期267-269,共3页Journal of Clinical Neurology

摘　　要：目的　探讨上海地区人群亚甲基四氢叶酸还原酶 (MTHFR)基因多态性与脑出血的关系。方法应用聚合酶链反应 限制性片断长度多态性 (PCR RFLP)技术 ,检测 94例脑出血患者 (脑出血组 )和 10 0名正常人 (对照组 )的MTHFR基因。结果　MTHFR基因第 6 77位核苷酸呈多态性 ,可分为 3种类型 :CC、CT、TT。 3种基因型频率脑出血组分别为 2 2 %、6 3%、15 % ;对照组分别为 4 0 %、4 9%、11% ;两组基因型频率TT∶CC +CT ,差异无显著性 (P >0 0 5 )。T等位基因频率脑出血组 4 6 % ,对照组 35 % ,两组间比较差异有显著性 (P <0 0 5 )。结论　MTHFR基因等位基因 (T)Objective To explore the relationship between methyltetrahydrofolic acid reductase(MTHFR) gene polymorphism and cerebral hemorrhage among Shanghai community-based population.Methods 94 patients with cerebral hemorrhage and 100 normal controls were screened by means of polymorase chain reaction and restriction fragment length polymorphism(PCR-PFLP).Results Among the three genotypes of the patients, CC(homozygous normal) accounted for 22%, CT(heterozygous) for 63%, TT(homozygous mutant) for 15%, while the frequency among control subjects was 40%, 49% and 11% respectively. No significant difference was found in the frequency of genotype of MTHFR gene between the sufferers and the controls, TT:CC+CT( P>0.05). Meanwhile, it was manifested that the difference was obvious between the sufferers and the controls in MTHFR gene mutation allele(T) frequency( P<0.05).Conclusion MTHFR gene mutation allele(T)is related to cerebral hemorrhage.

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 脑出血 病理 

分 类 号：R743.34[医药卫生—神经病学与精神病学]