乐山市育龄女性叶酸代谢关键酶基因多态性与不良孕产相关性研究

MTHFR and MTRR gene polymorphisms correlation with adverse pregnancy history in women of childbearing age in Leshan City

目的调查研究乐山市育龄妇女叶酸代谢关键酶基因5,10-亚甲基四氢叶酸还原酶(5,10-methylenetetrahydrofolate reductase,MTHFR)C 677 T、A 1298 C、甲硫氨酸合成酶还原酶(Methionine synthase reductase,MTRR)A 66 G基因位点遗传特异性与不良孕产的相关性。方法选取2016~2019年到乐山市人民医院进行围孕期保健的育龄女性,曾有不良孕产的女性100例为病例组,正常女性208例为对照组,采集口腔黏膜细胞,提取人体DNA,采用荧光定量PCR方法检测MTHFR C 677 T/A 1298 C和MTRR A 66 G基因位点,并进行统计学分析。结果MTHFR C 66 T位点基因型和等位基因频率在病例组和对照组中比较,差异有统计学意义(P<0.05),其中高风险基因型TT型病例组的分布频率为19.0%,高于对照组的12.0%,不良孕产的T等位基因占比也高于正常人群,MTRR A 66 G和MTHFR A 1298 C基因遗传位点分布在正常女性与不良孕产女性中比较,差异无统计学意义(P>0.05)。结论MTHFR C 677 T位点的基因多态性与不良孕产的发生密切相关,对受检者发生不良妊娠结局的可能性具有一定的预判价值,MTHFR 66 TT型增加了不良妊娠的发生风险,对于检测出MTHFR 66 TT的孕妇,更应于孕前补充足量的叶酸,加强产检来降低不良妊娠结局的发生。

Objective To investigate the 5,10-methylenetetrahydrofolate reductase(MTHFR)C 677 T,A 1298 C,Methionine synthase reductase(MTRR)A66G gene locus genetic correlation and poor motherhood in women of childbearing age in Leshan City.Methods From 2016 to 2019,women of childbearing age who went to Leshan Peoples Hospital for perinatal health care were selected.100 cases of women who had an adverse pregnancy were used as the case group,and 208 cases of normal women were used as the control group.Oral mucosal cells were collected to extract human DNA.The MTHFR C 677 T/A 1298 C and MTRR A 66 G gene loci were detected by real一time quantitative PCR and compared statistically.Results The genotype and allele frequencies of the MTHFR C 66 T loci were significantly different between the case group and the control group(P<0.05).The distribution frequency of the high-risk genotype TT genotype in the adverse pregnancy group was 19.0%and was higher than the control group of 12.0%,and the proportion of T alleles in poor motherhood is also higher than in the normal population.The genetic distribution of MTRR A 66 G and MTHFR A 1298 C genes in normal women and women with poor motherhood were not statistically different(P>0.05).Conclusion The gene polymorphism at the MTHFR C 677 T locus is closely related to the occurrence of adverse pregnancy.It has a certain predictive value for the possibility of adverse pregnancy outcomes in patients.The MTHFR 66 TT type increases the risk of adverse pregnancy.Pregnant women with MTHFR 66 TT should add sufficient folic acid before pregnancy and strengthen the birth check to reduce the incidence of adverse pregnancy outcomes.