河北省廊坊市区汉族女性MTHFR及MTRR基因多态性调查  

Investigation on MTHFR and MTRR gene polymorphisms among the women of Han nationality in urban area of Langfang City,Hebei Province

作　　者：顾小红[1] 鲁衍强 路广平 沈宏杰 梁潇予 杨琦[4] GU Xiao-Hong;LU Yan-Qiang;LU Guang-Ping(Langfang Municipal People＇s Hospital,Langfang,Hebei 065000,China)

机构地区：[1]廊坊市人民医院,河北廊坊065000 [2]上海靶向分子医学研究所,上海200433 [3]廊坊市广阳区妇幼保健院,河北廊坊065000 [4]中国疾病预防控制中心妇幼保健中心,北京100101

出　　处：《中国妇幼保健》2018年第18期4221-4223,共3页Maternal and Child Health Care of China

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-0212)

摘　　要：目的探讨河北省廊坊市汉族女性5,10-亚甲基四氢叶酸还原酶(MTHFR)以及甲硫氨酸合成酶还原酶(MTRR)基因多态性频率特点,旨在指导女性科学增补叶酸,优生优育。方法以廊坊市的6 265例汉族女性作为研究对象,通过Taq Man-MGB荧光定量PCR法对口腔黏膜细胞中提取的基因组DNA中MTHFR和MTRR的多态性位点进行分析,统计出廊坊市汉族女性两种基因多态性位点的频率分布特点,并与已报道的我国其他地区的数据进行比较分析,为出生缺陷防控、优生优育提供分子医学理论依据。结果廊坊市汉族女性的MTHFR C677T基因型和等位基因频率与尚志、辽源、苏州、松滋、九江、长沙、南宁和珠海等地区比较差异有统计学意义(P<0.05),MTHFR A1298C基因型和等位基因频率与苏州、松滋、九江、长沙、南宁和珠海等地区相比差异有统计学意义(P<0.05);MTRR A66G基因型和等位基因频率与德州、九江、长沙、珠海等地区的差异有统计学意义(P<0.05)。结论廊坊市汉族女性MTHFR和MTRR基因多态性频度分布表现出明显的地区特异性。Objective To explore the characteristics of 5,10-methylenetetrahydrofolate reductase（ MTHFR） and methionine synthase reductase（ MTRR） gene polymorphisms among the women of Han nationality in Langfang City,Hebei Province,direct scientific supplementation of folic acid and eugenics. Methods A total of 6 265 Han women were selected from Langfang City,Taq Man-MGB fluorescent quantitative PCR was used to analyze MTHFR and MTRR gene polymorphism sites in genomic DNA abstracted from oral mucosa cells. The distribution characteristics of MTHFR and MTRR gene polymorphisms among Han women in Langfang City were analyzed statistically,then the results were compared with those in other areas in China to provide a theoretical basis of molecular medicine for prevention and control of birth defects,eugenics. Results There were statistically significant differences in the frequencies of MTHFR 677 TT genotype and allele between Han women in Langfang and the women in Shangzhi,Liaoyuan,Suzhou,Songzi,Jiujiang,Changsha,Nanning,and Zhuhai（ P〈0. 05）. There were statistically significant differences in the frequencies of MTHFR A1298 C genotype and allele between Han women in Langfang and the women in Suzhou,Songzi,Jiujiang,Changsha,Nanning,and Zhuhai（ P〈0. 05）. There were statistically significant differences in the frequencies of MTRR A66 G genotype and allele between Han women in Langfang and the women in Dezhou,Jiujiang,Changsha,and Zhuhai（ P〈0. 05）. Conclusion The distributions of MTHFR and MTRR gene polymorphisms among Han women in Langfang City have significant regional specificity.

关 键 词：亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 汉族女性 

分 类 号：R715.5[医药卫生—妇产科学]