title: [C677T polymorphism of the methylentetrahydrofolate reductase gene as risk factor in women with recurrent abortion].
abstract: 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.
authors: Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela. emachin@cantv.net
authors: Alisandra
authors: A
authors: Morales-Machín
authors: Lisbeth
authors: L
authors: Borjas-Fajardo
authors: José Miguel
authors: JM
authors: Quintero
authors: William
authors: W
authors: Zabala
authors: Francisco
authors: F
authors: Alvarez
authors: Wilmer
authors: W
authors: Delgado
authors: María Luisa
authors: ML
authors: Hernández
authors: Ernesto
authors: E
authors: Solis-Añez
authors: Yanira y
authors: Yy
authors: Sánchez
authors: Zoraida
authors: Z
authors: Butrón
mesh_terms: D000026:Abortion, Habitual / Q000453:epidemiology / Q000235:genetics*; D000328:Adult; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000502:physiology; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D012307:Risk Factors; D014687:Venezuela / Q000453:epidemiology; D055815:Young Adult
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)