论文部分内容阅读
目的探讨洛阳市汉族女性MTHFR、MTRR基因多态性的频率特征,以指导孕妇增补叶酸和出生缺陷一级预防。方法以洛阳市619例汉族女性为研究对象,检测MTHFR 677T、A1298C和MTRR A66G的基因分型。统计分析基因多态性的频率特征,并与已报道的其他地区汉族女性的数据进行比较。结果洛阳市汉族女性的MTHFR C677T位点TT纯合突变基因型频率为38.4%,高于湘潭、烟台、镇江、松滋、眉山、惠州、延边、琼海、乌鲁木齐、银川和南宁,差异均有统计学意义(P<0.05)。MTHFR A1298C位点CC纯合突变基因型频率为1.9%,高于湘潭、镇江、松滋、眉山、惠州、琼海和南宁,差异均有统计学意义(P<0.05)。MTRR A66G位点GG纯合突变基因型频率为4.7%,低于湘潭、烟台、松滋、琼海等地,差异有统计学意义(P<0.05)。结论洛阳市汉族女性MTHFR和MTRR基因多态性频率分布具有地域特异性。
Objective To explore the frequency characteristics of MTHFR and MTRR gene polymorphisms in Han nationality women in Luoyang to guide the primary prevention of folic acid supplementation and birth defects in pregnant women. Methods A total of 619 Han women in Luoyang were enrolled in this study. The genotypes of MTHFR 677T, A1298C and MTRR A66G were detected. The frequency characteristics of the genetic polymorphisms were statistically analyzed and compared with the reported data of Han women in other areas. Results The prevalence of TT homozygous mutation in MTHFR C677T locus in Han nationality women in Luoyang was 38.4%, higher than that in Xiangtan, Yantai, Zhenjiang, Songzi, Meishan, Huizhou, Yanbian, Qionghai, Urumqi, Yinchuan and Nanning Statistical significance (P <0.05). The CC genotype frequency of MTHFR A1298C locus was 1.9%, which was significantly higher than that of Xiangtan, Zhenjiang, Songzi, Meishan, Huizhou, Qionghai and Nanning (P <0.05). The genotype frequency of GG homozygous mutation at A66G site of MTRR was 4.7%, which was lower than that of Xiangtan, Yantai, Songzi and Qionghai (P <0.05). Conclusion The frequencies of MTHFR and MTRR gene polymorphisms in Han nationality women in Luoyang are regionally specific.