稽留流产人群MTHFR基因多态性与循环半胱氨酸及叶酸浓度关系的研究  

Study on the relationship between MTHFR polymorphisms and cysteine and folate concentration in retained abortion population

作　　者：周洁 倪吴花[2] 金雪静 张治芬 ZHOU Jie;NI Wu-hua;JIN Xue-jing;ZHANG Zhi-fen(Reproductive Endocrine Center,Hangzhou Women’Hospital,Hangzhou,Zhejiang 310008,China)

机构地区：[1]杭州市妇产科医院生殖内分泌,浙江杭州310008 [2]温州医科大学附属第一医院生殖中心,浙江温州325000

出　　处：《中国卫生检验杂志》2020年第15期1844-1847,1851,共5页Chinese Journal of Health Laboratory Technology

基　　金：温州市科技计划项目(20140728)。

摘　　要：目的探讨稽留流产人群亚甲基四氢叶酸还原酶(MTHFR)基因多态性与循环同型半胱氨酸(Hcy)及叶酸浓度的关系。方法以229例有稽留流产史的孕产妇为研究组,220例无稽留流产史的健康孕产妇为对照组,采集外周静脉血测定Hcy及叶酸浓度,并采用聚合酶链反应-限制片段长度多态性(PCR-RFLP)测定MTHFR基因C677T位点和A1298C位点的多态性。结果研究组A1298C位点C等位基因频率和CC基因型频率高于对照组,C677T位点T等位基因频率和TT基因型频率高于对照组,组间差异均有统计学意义(P<0.05)。研究组血清Hcy水平高于对照组,叶酸水平低于对照组,差异均有统计学意义(P<0.05)。根据MTHFR基因多态性的检测结果进行风险分级,中高风险病例的Hcy水平高于低风险病例,低风险病例高于无风险病例;中高风险病例的叶酸水平低于低风险病例,低风险病例低于无风险病例;Hcy水平与MTHFR基因多态性风险分级呈正相关性(P<0.05),叶酸水平与MTHFR基因多态性风险分级呈负相关(P<0.05)。结论MTHFR基因A1298C位点和C677T位点多态性均可能影响血清Hcy及叶酸浓度,并可能参与了稽留流产的病理机制。Objective To explore the relationship between gene polymorphism of methylenetetrahydrofolate reductase(MTHFR)and circle homocysteine(Hcy)and folic acid levels.Methods A total of 229 women with missed abortion history were selected as the study group,and 220 women without missed abortion history were selected as the control group.The peripheral venous blood of all women was extracted to detect Hcy and folic acid levels,and the gene polymorphism of MTHFR at locus C677T and A1298C were both detected with polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).Results The C allele frequencies and CC genotype frequency of study group were higher than the control group at locus A1298C.The T allele frequencies and TT genotype frequency of study group were higher than the control group at locus C677T,and the difference between groups had statistical significance(P<0.05).The serum Hcy level of the study group was higher than the control group,while the folic acid level of the study group was lower than the control group,and the difference between groups had statistical significance(P<0.05).According to the gene polymorphism of MTHFR,the patients were divided into 3 groups,the Hcy level of middle/high-risk group was higher than the low-risk group,and the low-risk group was higher than the non-risk group.The folic acid level of middle/high-risk group was lower than the low-risk group,and the low-risk group was lower than the non-risk group.Hcy level was positively correlated with the risk grading of MTHFR polymorphisms,while folic acid level was negatively correlated with the risk grading of MTHFR polymorphisms(P<0.05).Conclusion The polymorphisms of MTHFR at locus A1298C and C677T might affect the serum Hcy and folic acid concentrations,and be involved in the pathogenesis of missed abortion.

关 键 词：稽留流产 亚甲基四氢叶酸还原酶 基因多态性 同型半胱氨酸 叶酸 

分 类 号：R714.21[医药卫生—妇产科学]