叶酸基因检测对于不明原因复发性自然流产的应用价值

Application value of folic acid gene detection for unexplained recurrent spontaneous abortion

目的探讨叶酸基因检测对于不明原因复发性自然流产的应用价值。方法选择2016年1月-2019年1月温州市中心医院截止不明原因复发性自然流产患者200例纳入研究,依据叶酸基因检测与否分为研究组、对照组,各100例。采用荧光定量PCR技术对叶酸MTHFR基因(C677T、A1298C)多态性实施检测,探究叶酸MTHFR基因型和不明原因复发性自然流产发生相对风险性。结果研究组血浆叶酸、红细胞叶酸表达水平均高于对照组(P<0.05);研究组MTHFR基因C677T位点CC基因型频率高于对照组,但TT基因型频率低于对照组,(P<0.05);两组MTHFR基因A1298C位点AA、AC、CC基因型的频率分布差异无统计学意义(P>0.05);研究组MTHFR基因C677T位点C等位基因的频率高于对照组,但T等位基因频率低于对照组(P<0.05);相较于MTHFR基因C677T位点CC纯合子,TT纯合子基因型患者出现不明原因复发性自然流产风险高3.29倍,OR值为3.288,95%CI为1.340~8.065。结论不明原因复发性自然流产患者体内叶酸水平降低,叶酸MTHFR C677T位点基因多态性和不明原因复发性自然流产发生存在相关性,且MTHFR基因C677T位点TT基因型可导致患病风险增加。

Objective To investigate the application value of folic acid gene detection for unexplained recurrent spontaneous abortion.Methods From January 2016 to January 2019,200 cases of patients with unexplained recurrent spontaneous abortion in our hospital were enrolled in the study.All patients were divided into study group and control group according to the detection of folic acid gene,with 100 cases in each group.The folate MTHFR gene(C677T,A1298C)polymorphism was detected by real-time PCR.To explore the relative risk of folate MTHFR genotype and unexplained recurrent spontaneous abortion.Results The levels of folic acid and erythrocyte folate expression in the study group were higher than those in the control group(P<0.05).The CC genotype frequency of the C677T locus in the MTHFR gene of the study group was higher than that of the control group,but the frequency of TT genotype was lower than that in the control group(P<0.05).There was no significant difference in the frequency distribution of AA,AC and CC genotypes between the two groups of MTHFR gene A1298C(P>0.05).The frequency of the C allele of the C677T locus in the MTHFR gene of the study group was higher than that of the control group,but the frequency of the T allele was lower than that of the control group(P<0.05).Compared with the homozygous CC of the C677T site of the MTHFR gene,the risk of unexplained recurrent spontaneous abortion was 3.29 times higher in patients with TT homozygous genotype,the OR value was 3.288,and the 95%CI was 1.340-8.065.Conclusion The folate level in patients with unexplained recurrent spontaneous abortion is decreased,the folate MTHFR C677T locus gene polymorphism is associated with unexplained recurrent spontaneous abortion,and the MTHFR gene C677T locus TT genotype may lead to increased risk.