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目的探讨叶酸代谢相关酶基因多态性与不良孕产的临床关系。方法 80例不良孕产妇女作为不良孕产组,80例正常生育妇女作为正常组。采集两组妇女的口腔黏膜上皮细胞提取基因组DNA,以聚合酶链式反应(PCR)技术进行基因多态性检测。观察两组妇女的基因型分布特点,并就其与不良孕产之间的关系展开分析。结果不良孕产组妇女亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点的TT突变纯合型、A1298C位点的CC突变纯合型,甲硫氨酸合成酶还原酶(MTRR)基因A66G位点GG突变纯合型基因频率(47.50%、12.50%、18.75%)均高于正常组(21.25%、3.75%、7.50%),差异均有统计学意义(P<0.05)。不良孕产组妇女MTHFR基因C677T位点的CC野生纯合型、A1298C位点的AA野生纯合型,MTRR基因A66G位点的AA野生纯合型基因频率(21.25%、50.00%、41.25%)均低于正常组(36.25%、66.25%、58.75%),差异均有统计学意义(P<0.05)。结论叶酸代谢相关酶基因多态性与不良孕产的发生有重要的关联。
Objective To investigate the clinical relationship between folic acid metabolism related enzyme gene polymorphism and adverse pregnancy. Methods 80 cases of poor pregnant women as a poor motherhood group, 80 normal birth women as a normal group. Genomic DNA was extracted from oral mucosal epithelial cells from two groups of women and detected by polymerase chain reaction (PCR). The genotype distribution of the two groups of women was observed, and the relationship between the two groups was analyzed. Results The TT genotype homozygosity of the MTHFR gene C677T in the maternal group was homozygous, the CC mutation in the A1298C site was homozygous, and the methionine synthase reductase (MTRR) gene The frequencies of homozygous GG mutation at the A66G site were significantly higher than those in the normal control group (47.50%, 12.50%, 18.75%, 21.25%, 3.75% and 7.50%, respectively). The difference was statistically significant (P <0.05). CC wild homozygous MTHFR gene C677T site, AA wild homozygous at A1298C site, and AA wild homozygous gene frequency (21.25%, 50.00%, 41.25%) of A66G site of MTRR gene in women with adverse pregnancy. (36.25%, 66.25%, 58.75% respectively), the differences were statistically significant (P <0.05). Conclusion There is an important correlation between the polymorphisms of the enzyme related to folic acid metabolism and the occurrence of poor pregnancy.