MTHFR、MTRR基因多态性与反复流产的相关性分析

目的探讨叶酸代谢相关基因5,10-亚甲基四氢叶酸还原酶(MTHFR)、甲硫氨酸合成酶还原酶(MTRR)多态性与反复流产的关系,分析基因多态性对红细胞叶酸水平的影响。方法选取2016年12月至2018年6月来唐山市妇幼保健院遗传咨询门诊,要求进行常规孕前检查,汉族非妊娠健康女性424例为研究对象。依据不良孕产史分为两组,其中病例组216例和对照组218例。采集静脉血,提取DNA,荧光定量PCR法进行MTHFR、MTRR基因多态性检测。化学发光法进行红细胞叶酸定量检测。采用SPSS19.0软件进行统计学分析。比较两组MTHFR、MTRR基因多态性分布频率、不同基因类型红细胞叶酸水平。探讨基因多态性、红细胞叶酸水平与反复流产的关系。结果MTHFR A1298C和MTRR A66G两位点多态性在病例组和对照组间的分布,差异无统计学意义。MTHFR C677T位点多态性,在病例组中的分布频率明显高于对照组,差异具有统计学意义。病例组中MTHFR C667T位点TT型基因突变的患者红细胞叶酸水平远低于正常和杂合型。结论MTHFR C677T基因突变与反复流产的密切相关,MTHFR C667T位点TT型基因突变影响机体红细胞叶酸代谢水平。

Association of the gene polymorphisms of MTHFR and MTRR with recurrent spontaneous abortion

Objective:To investigate and analyze the correlations between folic acid metabolism related genes methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR)polymorphisms and recurrent spontaneous abortion.To investigate blood folate concentrations and associated factors.Method:Genomic DNA was extracted from peripheral blood and genotyping was performed by real-time PCR.χ~2 test was used to analyze the correlation between folic acid metabolism related genes polymorphisms and recurrent spontaneous abortion results.Results:Compared with normal women,the distribution of MTHFR C677T in RPL women was statistically significant(P<0.05),while the distribution of MTHFR A1298C loci and MTRR A66G loci was not statistically significant(P>0.05).The erythrocyte folic acid level of women with MTHFR C677T was much lower than the women in normal groups and it is statistically significant difference.