CAJ | 학술논문

目的：分析无锡女性叶酸代谢相关基因MTHFR与MTRR的基因多态性分布特征。方法对无锡市524名育龄妇女，采集口腔黏膜上皮细胞，提取基因组DNA，用荧光定量PCR方法对MTHFR与MTRR基因多态性位点进行检测分析，了解无锡市妇女MTHFR与MTRR基因单核苷酸位点多态性（SNP）的分布频度，并与山东、河南、广东、海南等地区进行比较。结果无锡地区妇女MTHFR C677T位点多态性分布与山东、河南、广东、海南地区数据比较差异均有统计学意义（P均＜0.05）；MTHFR A1298C位点等位基因C出现频率低于等位基因A，与广东、海南地区数据比较差异均有统计学意义（P＜0.01）。MTRR A66G位点多态性的分布与山东、河南、广东等地区数据比较差异无统计学意义（P均＞0.05）。结论无锡地区女性MTHFR基因多态性分布具有地区特异性。
목적：분석무석녀성협산대사상관기인MTHFR여MTRR적기인다태성분포특정。방법대무석시524명육령부녀，채집구강점막상피세포，제취기인조DNA，용형광정량PCR방법대MTHFR여MTRR기인다태성위점진행검측분석，료해무석시부녀MTHFR여MTRR기인단핵감산위점다태성（SNP）적분포빈도，병여산동、하남、엄동、해남등지구진행비교。결과무석지구부녀MTHFR C677T위점다태성분포여산동、하남、엄동、해남지구수거비교차이균유통계학의의（P균＜0.05）；MTHFR A1298C위점등위기인C출현빈솔저우등위기인A，여엄동、해남지구수거비교차이균유통계학의의（P＜0.01）。MTRR A66G위점다태성적분포여산동、하남、엄동등지구수거비교차이무통계학의의（P균＞0.05）。결론무석지구녀성MTHFR기인다태성분포구유지구특이성。
Objective To analyze genotype distributions of folic acid metabolic associated genes MTHFR and MTRR in Wuxi women. Method Five hundred and twenty-four women of childbearing age were recruited in this study. Genomic DNA was collected from their oral epithelial cells and detected by quantitative fluorescence PCR. The SNPs frequencies of MTHFR and MTRR were analyzed,and then were compared with that of Shandong,Henan,Guangdong and Hainan. Results The frequencies of MTHFR C677T in Wuxi women were significantly different from Shandong,Henan,Guangdong and Hainan (P<0.05 ). The C allele frequency of MTHFR A1298C was lower than A allele among women in Wuxi,and it was different from Guang-dong and Hainan (P<0.01). There was no significant difference of MTRR A66G polymorphism distribution between Wuxi and the other provinces (Such as Shandong,Henan and Guangdong etc),P>0.05. Conclu-sions Distribution of MTHFR polymorphism in Wuxi women is region specific.