亚甲基四氢叶酸还原酶基因多态性与不良妊娠结局的关系

浙江医学2018年第40卷第17期大运高速

不良妊娠结局包括流产、死胎、早产、胎儿畸形及先

天性出生缺陷等，严重影响人口健康素质和社会经济发展。目前关于不良妊娠结局的原因尚不十分清晰，有研

究表明遗传因素与其有关，并涉及到相关基因的突变[1]。近年来，与叶酸代谢密切相关的亚甲基四氢叶酸还原酶

（5,10-Methylenetetrahydrofolate reductase ，MTHFR ）的单梅瑾卢莎王昊陈益明王小华

亚甲基四氢叶酸还原酶基因多

态性与不良妊娠结局的关系

doi ：10.12056/j.issn.1006-2785.2018.40.17.2018-843基金项目：杭州市重点专病专科项目（20150733Q36）；浙江省医药卫生科技计划项目（2017KY552）作者单位：310008杭州市妇产科医院（杭州市妇幼保健院）产前诊断中心（梅瑾、卢莎、王昊、陈益明），营养中心（王小华）通信作者：王小华，E-mail:wxh590826@126 【摘要】目的探讨亚甲基四氢叶酸还原酶（MTHFR ）基因位点多态性与不良妊娠结局的关系。方法选取曾有不良妊娠结局的育龄期妇女242例为研究组，同期就诊的无不良妊娠史的育龄期妇女339例为对照组。采用荧光定量PCR 法分析MTHFR 基因C677T 和A1298C 两个位点单核苷酸多态性的基因型，比较两组基因型及等位基因频率分布。结果研究组C677T 位点的CC 野生纯合型频率低于对照组，TT 突变纯合型频率高于对照组，差异均有统计学意义（均P ＜0.05）；而两组CT 突变杂合型频率比较差异无统计学意义（P ＞0.05）。两组C 、T 等位基因频率比较差异有统计学意义（P ＜0.05）。研究组A1298C 位点的AA 野生纯合型频率低于对照

组，CC 突变纯合型频率高于对照组，差异均有统计学意义（均P ＜0.05）；而两组AC 突变杂合型频率比较差异无统计学意义（P ＞0.05）。两组A 、C 等位基因频率比较差异有统计学意义（P ＜0.05）。研究组CC/CC 、CT/CC 、TT/AC 联合基因型频率显著高于对照组，而CC/AA 和CT/AA 联合基因型频率显著低于对照组，差异均有统计学意义（均P ＜0.05）。结论MTHFR 基因突变与不良妊娠结局之间可能存在相关性。MTHFR 基因多态性可能是导致不良妊娠结局的发生的重要影响因素。

【关键词】亚甲基四氢叶酸还原酶叶酸代谢基因多态性出生缺陷不良妊娠结局

网络安全技术与应用Association of MTHFR gene C677T and A1298C polymorphisms and adverse pregnancy outcomes

China

【Abstract 】Objective To investigate the relationship between 5,10-Methylenetetrahydrofolate reductase (MTHFR )gene polymorphisms and adverse pregnancy outcomes.Methods Two hundred and forty two women of reproductive age with adverse pregnancy outcomes were enrolled as the study group,339women of reproductive age who had no adverse pregnancy outcomes served as the control group,all women came from the same hospital during the same period.MTHFR gene C677T and A1298C polymorphisms were analyzed by fluorescence quantitative PCR and the distribution frequency of alleles and genotypes in two groups were compared.Results The frequency of CC hom

ozygote in C677T of study group were lower than that of control group (P ＜0.05),the TT frequency was increased significantly in study group compared with that in the control group (P ＜0.05).There was no significant difference in the frequency of CT mutated heterozygous type between the two groups (P ＞0.05).There was a statistically significant difference in the frequency of C and T alleles between the two groups(P ＜0.05).The frequency of AA homozygote in A1298C of study group were lower than that of control group(P ＜0.05),the CC frequency was increased significantly in study group compared with that of the control group(P ＜0.05).There was no significant difference in the frequency of AC mutated heterozygous type between the two groups(P ＜0.05).There was a statistically significant difference in the frequency of A and C alleles between the two groups (P ＜0.05).The combined mutant genotype CC/CC,CT/CC and TT/AC in C677T and A1298C was significantly higher and that of CC/AA 和CT/AA was significantly lower in study group than those in control group (all P ＜0.05).Conclusion There is a correlation between MTHFR gene mutation and adverse pregnancy out-comes,indicating that MTHFR gene polymorphism may lead to adverse pregnancy outcomes.

【Key words 】5,10-Methylenetetrahydrofolate reductase Folic acid metabolism Gene polymorphism Congenital abnormalities Adverse pregnancy outcomes

·花龄盛会

1930

特洛伊木马病毒

可达矩阵

企业国有资产交易监督管理办法

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