摘要
目的探讨汉族女性亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C及甲硫氨酸合成酶还原酶(MTRR)A66G基因多态性的分布特征。方法采用横断面调查方法,采集、提取张家港市3843例汉族女性的口腔黏膜上皮细胞基因组DNA,检测MTHFR和MTRR基因多态性,分析基因多态性的分布特征;其结果与其他地区汉族女性基因多态性进行比较,分析MTHFR C677T和A1298C两位点连锁情况及单倍型。结果张家港市汉族女性的MTHFR C677T基因型频率与延边、银川、廊坊、淄博、济源、镇江、德阳、松滋、湘潭、惠州、南宁、琼海等地差异有统计学意义(P<0.01),MTHFR 677TT纯合子基因型频率为18.7%。MTHFR A1298C基因型频率与银川、廊坊、淄博、德阳、湘潭、惠州、南宁、琼海等地差异亦有统计学意义(P<0.05或P<0.01),MTHFR 1298CC纯合子基因型频率为3.0%。MTRR A66G基因型频率与德阳、琼海等地的差异有统计学意义(P<0.01),MTRR 66GG纯合子基因型频率为5.5%。MTHFR C677T和A1298C两位点间存在强连锁不平衡现象(D′=0.988,r2=0.154)。结论张家港市汉族女性MTHFR和MTRR基因多态性分布具有地区性特征。
Objective To explore the gene polymorphisms distribution of methylenete- trahydrofolatereductase （MTHFR） C677T, A1298C and methionine synthase reductase （MTRR） A66G in Han women. Methods A cross-sectional study was used. A total of 3843 oral epithelial cells samples from recruited Han women in Zhangiiagang city, China was collected. The detections of MTHFR and MTRR gene polymorphisms were conducted with Taqman-MGB technique. The distribution of gene polymorphisms was analyzed and compared with that from the women in other regions of China. Results The frequency of MTHFR C677T genotype in Han women in Zhangiiagang city was statistically different from those in Yanbian, Yinchuan, Langfang, Zibo, Jiyuan, Zhenjiang, Deyang, Songzi, Xiangtan, Huizhou, Nanning and Qionghai （P〈0. 01）. The frequency of MTHFR 677TT genotype was 18. 7%. The frequency of MTHFR A1298C genotype in Han women in Zhangjiagang city was statistically different from those in Yinehuan, Langfang, Zibo, Deyang, Xiangtan, Huizhou, Nanning and Qionghai（P〈0. 05 or P〈0. 01）. The frequency of MTHFR 1298CC genotype was 3.0%. The frequency of MTRR A66G genotype in Han women in Zhangjiagang city was statistically different from those in Deyang and Qionghai（P〈0. 01）. The frequency of MTRR 66GG genotype was 5.5%. MTHFR C677T showed a strong linkage disequilibrium with A1298C （D′=0. 988, r2=0. 154）. Conclusion The gene polymorphism distribution of MTHFR C677T, A1298C and MTRR A66G in Han women in Zhangjiagang city has regional feature.
出处
《江苏医药》
CAS
2016年第3期269-271,276,I0001,共5页
Jiangsu Medical Journal
基金
中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(FY-ZX-ZD-0081)
