Morales-Machín Alisandra, Borjas-Fajardo Lisbeth, Quintero José Miguel, Zabala William, Alvarez Francisco, Delgado Wilmer, Hernández María Luisa, Solis-Añez Ernesto, Sánchez Yanira y, Butrón Zoraida
Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela.
Invest Clin. 2009 Sep;50(3):327-33.
The pathogenesis of recurrent spontaneous abortion is multifactorial, presumably involving the interaction of several genetic and environmental factors. The methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism has been implicated as risk factor for recurrent spontaneous abortion (RA). The main objective of this research was to investigate the association between the C677T polymorphism of the MTHFR gene as a genetic risk factor for idiopathic RA. Molecular analysis was performed in 80 DNA samples from 30 patients with RA and among 50 healthy control subjects. Using the Polymerase Chain Reaction (PCR), a 198 bp (bases pairs) fragment, was digested with the restriction enzyme Hinf1, which can recognize the C > T substitution responsible for the polymorphism. 677T MTHFR allele frequencies for group with RA and the control group were 35% and 33%, respectively and 677C MTHFR allele frequencies were 65% and 67%, respectively. There was no significant difference in allele frequency between these two groups. The data presented in this study fail to support the relationship between MTHFR C677T polymorphism and risk in women with RA.
复发性自然流产的发病机制是多因素的,可能涉及多种遗传和环境因素的相互作用。亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性被认为是复发性自然流产(RA)的一个危险因素。本研究的主要目的是调查MTHFR基因C677T多态性作为特发性RA的遗传危险因素之间的关联。对来自30例RA患者的80份DNA样本和50名健康对照者进行了分子分析。使用聚合酶链反应(PCR),一个198bp(碱基对)的片段,用限制性内切酶Hinf1消化,该酶可识别导致多态性的C>T替换。RA组和对照组的677T MTHFR等位基因频率分别为35%和33%,677C MTHFR等位基因频率分别为65%和67%。这两组之间的等位基因频率没有显著差异。本研究提供的数据不支持MTHFR C677T多态性与RA女性风险之间的关系。