title: [Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ].
abstract: BACKGROUND
  Several population studies have shown that patients with neural tube defects (NTD), have a higher frequency of a genetic mutation related with thermolability of the enzyme 5,10-metylentetrahydrofolate reductase (MTHFR). There are regional and ethnic variations in the genotypic or allelic frequency of this mutation and its possible relationship with NTD and others congenital anomalies.
  
  
  OBJECTIVE
  To estimate the frequency of the C677T polymorphism of MTHFR in control women and mothers of spina bifida cases.
  
  
  METHODS
  We analyzed 58 blood samples from mothers who had a child diagnosed with spina bifida. A group of 184 healthy mothers matched by age and with no NTD offspring served as controls. We determined the C677T polymorphism on the MTHFR gene by means of PCR and the analysis of the digestion pattern of HinfI restriction enzyme.
  
  
  RESULTS
  The genotypic frequencies showed concordance with Hardy-Weinberg equilibrium, in controls (p = 0.35), and in mothers of the cases (p = 0.95). The odds ratio to the TT genotype compared with the CC genotype (reference category) was estimated as 1.54 (IC 95%: 0.66-3.61), while the odds ratio for the TC genotype compared with CC genotype was 1.06 (IC 95%: 0.48-2.33).
  
  
  CONCLUSIONS
  No differences in the C677T polymorphism of the MTHFR were observed between mothers who had a child diagnosed with spina bifida and control mothers.
authors.affiliation: Programa de Genética y Enfermedades Metabólicas, INTA, Universidad de Chile, Macul 5540, casilla 138-11, Santiago de Chile.
authors.forename: Felipe
authors.initials: F
authors.lastname: Nitsche
authors.forename: M Angélica
authors.initials: MA
authors.lastname: Alliende
authors.forename: J Luis
authors.initials: JL
authors.lastname: Santos
authors.forename: Francisco
authors.initials: F
authors.lastname: Pérez
authors.forename: Lorena
authors.initials: L
authors.lastname: Santa María
authors.forename: Eva
authors.initials: E
authors.lastname: Hertrampf
authors.forename: Fanny
authors.initials: F
authors.lastname: Cortés
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002677:Chile; D005260:Female; D005838:Genotype; D006801:Humans; D045102:Methylenetetrahydrofolate Dehydrogenase (NAD+) / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D009035:Mothers; D009154:Mutation; D011110:Polymorphism, Genetic; D016135:Spinal Dysraphism / Q000097:blood / Q000235:genetics*
chemical_list: D045102:Methylenetetrahydrofolate Dehydrogenase (NAD+)