CAJ | 학술논문

目的：探讨中国南方汉族人群中阿尔茨海默病（AD）的发生与5，10-亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase，MTHFR）基因677位点单核苷酸多态性（677C→T突变）的关系。方法：利用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）技术，检测45例AD患者和48例健康老年人的MTHFR基因的单核苷酸多态性，并加以对照分析。结果：AD患者MTHFR基因677位点的各基因型分布与对照组间无显著差异（P＞0．05）。 AD组和对照组间C、T基因频率分布差异也无统计学意义（P＞0．05），但AD组中，T基因的频率略高于对照组。结论：本研究中MTHFR基因677位点单核苷酸多态性（677C→T突变）不是AD发病的致病因素，但可能对AD有一定影响。
목적：탐토중국남방한족인군중아이자해묵병（AD）적발생여5，10-아갑기사경협산환원매（methylenetetrahydrofolate reductase，MTHFR）기인677위점단핵감산다태성（677C→T돌변）적관계。방법：이용취합매련식반응-한제성편단장도다태성（PCR-RFLP）기술，검측45례AD환자화48례건강노년인적MTHFR기인적단핵감산다태성，병가이대조분석。결과：AD환자MTHFR기인677위점적각기인형분포여대조조간무현저차이（P＞0．05）。 AD조화대조조간C、T기인빈솔분포차이야무통계학의의（P＞0．05），단AD조중，T기인적빈솔략고우대조조。결론：본연구중MTHFR기인677위점단핵감산다태성（677C→T돌변）불시AD발병적치병인소，단가능대AD유일정영향。
Objective To investigate the relationship between single nucleotide polymorphism (677C→T) of methylenetetrahydrofolate reductase and Alzheimer′s disease(AD) in south China Han people. Methods By applying polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP), MTHFR 677C→T mutation was detected in 45 AD patients and 48 healthy controls. Results The frequency of MTHFR 677C→T mutation of patients showed no significant difference to that of healthy controls (P > 0.05). There is no statistic significance between AD group and controls in C, T gene frequency(P>0.05). But T gene frequency is higher in AD group than in control group. Conclusion MTHFR C 677T is not the pathogenic factor for AD, but could have some effects on AD.