文章摘要
孔令娟,李恩彩,崔广树.妊娠期合并心脏病病人血清中 MTHFR基因 C677T位点多态性与母婴结局关系[J].安徽医药,2022,26(2):369-372.
妊娠期合并心脏病病人血清中 MTHFR基因 C677T位点多态性与母婴结局关系
Relationship between C677T polymorphism of MTHFR gene and maternal and infant out. comes in pregnant women with heart disease
  
DOI:10.3969/j.issn.1009-6469.2022.02.038
中文关键词: 妊娠并发症,心血管  妊娠期合并心脏病  MTHFR基因  C677T位点多态性  母婴结局
英文关键词: Pregnancy complications,cardiovascular  Heart disease during pregnancy  MTHFR gene  C677T polymorphism  Maternal and infant outcomes
基金项目:
作者单位
孔令娟 德州市妇女儿童医院产科山东德州 253000 
李恩彩 德州市妇女儿童医院产科山东德州 253000 
崔广树 德州市人民医院产科山东德州 2530000 
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中文摘要:
      目的探讨妊娠期合并心脏病病人血清中 MTHFR基因 C677T位点多态性与母婴结局关系。方法选取 2018年 2月至 2019年 10月德州市妇女儿童医院就诊的妊娠期合并心脏病病人 88例(妊娠期心脏病组)及同期健康孕妇 92例(对照组),通过聚合酶链式反应 -限制性片段长度多态性( PCR-RELP)法检测受试者血清 MTHFR基因 C677T位点多态性分布频率,并分析 MTHFR基因单核苷酸各基因型与符合妊娠结局的关系。结果 MTHFR基因 C677T位基因型有 CC野生型、 CT杂合子型、 TT纯合子型;对照组与妊娠期合并心脏病组 MTHFR基因 C677T位点各基因型符合 Hardy-Weinberg平衡定律;与对照组相比,妊娠期心脏病组 MTHFR基因 C677T位点 CT、TT基因型及 T等位基因频率分布显著升高( P<0.05);妊娠期心脏病组孕妇 CT型、 TT型病人巨大儿、新生儿低血糖、新生儿窒息、早产儿发生率均高于 CC型; TT型病人巨大儿、新生儿低血糖、新生儿窒息、早产儿发生率均高于杂合子 CT型( P<0.05);二元 logistic回归分析显示, MTHFR基因 C677T位点杂合子 CT型、纯合子突变 TT型是妊娠期合并心脏病病人不良妊娠结局发生的危险因素(P<0.05)。结论血清中 MTHFR基因 C677T位点多态性与妊娠期心脏病母婴结局关系密切。
英文摘要:
      Objective To investigate the relationship between C677T polymorphism of MTHFR gene in serum and maternal and in.fant outcomes in pregnant women with heart disease.Methods 88 pregnant women with heart disease during pregnancy and 92healthy pregnant women in the same period were selected as the study objects in Dezhou Women's and Children's Hospital from Febru.ary 2018 to October 2019, the distribution frequency of C677T locus on MTHFR gene was detected by polymerase chain reaction re.striction fragment length polymorphism (PCR-RELP), and the relationship between MTHFR single nucleotide genotypes and pregnancy outcomes was analyzed.Results The genotypes of C677T locus on MTHFR gene included CC wild type, CT heterozygote and TT ho.mozygote; the genotypes of C677T locus on MTHFR gene in the control group and the heart disease during pregnancy group conformedto Hardy-Weinberg equilibrium law; compared with the control group, the frequencies of CT, TT genotypes and T allele in C677T locusof MTHFR gene in heart disease during pregnancy group were significantly increased (P<0.05); the incidences of fetal macrosomia, neo.natal hypoglycemia, asphyxia neonatorum and premature in pregnant women of CT type and TT type in heart disease during pregnancygroup were higher than those in CC group; the incidences of fetal macrosomia, neonatal hypoglycemia, asphyxia neonatorum and prema.ture in pregnant women of TT type were higher than those in heterozygote CT type (P<0.05); and binary logistic regression analysisshowed that CT heterozygote and TT homozygote mutation at C677T locus on MTHFR gene were risk factors for adverse pregnancy out.come in patients with heart disease during pregnancy (P < 0.05).Conclusion The C677T polymorphism of MTHFR gene in serum isclosely related to the maternal and infant outcomes of heart disease during pregnancy.
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