摘要
目的 研究叶酸代谢障碍遗传风险分布地域性特征与佛山市南海区汉族女性5,10-亚甲基四氢叶酸还原酶(MTHFR)及甲硫氨酸合成酶还原酶(MTRR)基因的多态性频率特征,以指导育龄妇女增补叶酸及出生缺陷一级预防.方法 随机选取2014年9月-2015年7月佛山市南海区503位汉族女性,检测其MTHFR C677T、A1298C及MTRR A66G基因位点多态性,分析该地区基因的多态性分布特征.结果 佛山市汉族女性MTHFR 677TT基因型频率(7.6％)低于淄博(43.6％)、尚志(30.1％)、乌鲁木齐(26.1％)、延边(28.3％)、廊坊(33.9％)、银川(23.0％)、济源(37.4％)、镇江(21.8％)、荆州(14.3％)、眉山(17.7％)、九江(13.0％)、湘潭(12.6％)、昆明(14.1％),差异均有统计学意义(P＜0.01);等位基因频率(25.5％)高于南宁(24.1％)和琼海(22.1％),差异有统计学意义(P＜0.05);MTHFR 1298CC基因型频率(6.6％)高于淄博(1.4％)、尚志(2.0％)、延边(3.8％)、廊坊(4.9％)、银川(3.4％)、济源(2.0％)、镇江(3.5％)、荆州(3.2％)、眉山(3.5％)、九江(3.7％)、昆明(2.7％),差异有统计学意义(P＜0.05);等位基因频率(24.5％)最高(P＜0.05);MTRR 66GG基因型频率(5.8％)低于琼海(9.3％),差异有统计学意义(P＜0.01),等位基因频率(26.2％)低于琼海(30.9％),差异有统计学意义(P＜0.01).结论 佛山市南海区汉族女性MTHFR及MTRR基因的多态性频率分布具有地区特异性.对于基因突变导致叶酸代谢有障碍的孕期妇女需要通过增加叶酸补服的剂量和时间预防神经管畸形患儿的出生.
Abstract
Objective To research the regional features of folic acid metabolism disorder genetic risk distribution and distribution characteristics of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes polymorphisms among Han women in Nanhai District of Foshan city, guide supplementation of folic acid and primary prevention of birth defects.Methods A total of 503 Han women were randomly selected from Nanhai District of Foshan city from September 2014 to July 2015, MTHFR C677T, A1298C, MTRR A66G genes polymorphisms were detected, then the distribution characteristics were analyzed.Results The frequency of MTHFR 677TT genotype among Han women in Foshan city was 7.6％, which was statistically significantly lower than those in Zibo (43.6％), Shangzhi (30.1％), Urumuqi (26.1％), Yanbian (28.3％), Langfang (33.9％), Yinchuan (23.0％), Jiyuan (37.4％), Zhenjiang (21.8％), Jingzhou (14.3％), Meishan (17.7％), Jiujiang (13.0％), Xiangtan (12.6％), and Kunming (14.1％) (P＜0.01);the frequency of allele among Han women in Foshan city was 25.5％, which was statistically significantly higher.than those in Nanning (24.1％) and Qionghai (22.1％) (P＜0.05);the frequency of MTHFR 1298CC genotype among Han women in Foshan city was 6.6％, which was statistically significantly higher than those in Zibo (1.4％), Shangzhi (2.0％), Yanbian (3.8％), Langfang (4.9％), Yinchuan (3.4％), Jiyuan (2.0％), Zhenjiang (3.5％), Jingzhou (3.2％), Meishan (3.5％), Jiujiang (3.7％), and Kunming (2.7％) (P＜0.05);the frequency of allele among Han women in Foshan city was 24.5％, which was the highest (P＜0.05);the frequency of MTRR 66GG genotype among Han women in Foshan city was 5.8％, which was statistically significantly lower than that in Qionghai (9.3％) (P＜0.01);the frequency of allele among Han women in Foshan city was 26.2％, which was statistically significantly lower than that in Qionghai (30.9％) (P＜0.01).Conclusion The distributions of MTHFR and MTRR genes polymorphisms among Han women in Nanhai District of Foshan city are different from partial other regions of China.For the pregnant women with folic acid metabolism disorder induced by gene mutation, they need to increase the dose and treatment time of folic acid to prevent birth of neural tube defects infants.
基金项目
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-0194)
NETL
NSTL
维普
万方数据