Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normales
| Autor: | Felipe Nitsche V, M Angélica Alliende R, J Luis Santos M, Francisco Pérez B, Lorena Santa María V, Eva Hertrampf D, Fanny Cortés M |
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| Jazyk: | Spanish; Castilian |
| Rok vydání: | 2003 |
| Předmět: |
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 |
| Zdroj: | Revista médica de Chile v.131 n.12 2003 SciELO Chile CONICYT Chile instacron:CONICYT |
| Popis: | 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). |
| Databáze: | OpenAIRE |
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