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Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normales
- Source :
- Revista médica de Chile v.131 n.12 2003, SciELO Chile, CONICYT Chile, instacron:CONICYT
- Publication Year :
- 2003
- Publisher :
- Sociedad Médica de Santiago, 2003.
-
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. Aim: To estimate the frequency of the C677T polymorphism of MTHFR in control women and mothers of spina bifida cases. Patients and 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). Conclusion: No differences in the C677T polymorphism of the MTHFR were observed between mothers who had a child diagnosed with spina bifida and control mothers (Rev Med Chile 2003; 131: 1399-404).
- Subjects :
- medicine.medical_specialty
congenital, hereditary, and neonatal diseases and abnormalities
Offspring
Concordance
Population
medical
Methylenetetrahydrofolate Reductase
Genotype
Genetics
Medicine
education
Allele frequency
Gynecology
education.field_of_study
biology
business.industry
Spina bifida
General Medicine
Odds ratio
Spinal dysraphism
medicine.disease
nervous system diseases
Methylenetetrahydrofolate reductase
biology.protein
business
Subjects
Details
- Language :
- Spanish; Castilian
- Database :
- OpenAIRE
- Journal :
- Revista médica de Chile v.131 n.12 2003, SciELO Chile, CONICYT Chile, instacron:CONICYT
- Accession number :
- edsair.doi.dedup.....6b8ffff36178f8f0cc7c50aa6a9d7b94