Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normales

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...

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Autores principales:	Nitsche V,Felipe, Alliende R,M Angélica, Santos M,J Luis, Pérez B,Francisco, Santa María V,Lorena, Hertrampf D,Eva, Cortés M,Fanny
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2003
Materias:	Genetics medical Methylenetetrahydrofolate Reductase Spinal dysraphism
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003001200006
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spelling	oai:scielo:S0034-988720030012000062004-04-16Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normalesNitsche V,FelipeAlliende R,M AngélicaSantos M,J LuisPérez B,FranciscoSanta María V,LorenaHertrampf D,EvaCortés M,Fanny Genetics medical Methylenetetrahydrofolate Reductase Spinal dysraphism 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 Méd Chile 2003; 131: 1399-404).info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.131 n.12 20032003-12-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003001200006es10.4067/S0034-98872003001200006
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Genetics medical Methylenetetrahydrofolate Reductase Spinal dysraphism
spellingShingle	Genetics medical Methylenetetrahydrofolate Reductase Spinal dysraphism Nitsche V,Felipe Alliende R,M Angélica Santos M,J Luis Pérez B,Francisco Santa María V,Lorena Hertrampf D,Eva Cortés M,Fanny Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normales
description	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 Méd Chile 2003; 131: 1399-404).
author	Nitsche V,Felipe Alliende R,M Angélica Santos M,J Luis Pérez B,Francisco Santa María V,Lorena Hertrampf D,Eva Cortés M,Fanny
author_facet	Nitsche V,Felipe Alliende R,M Angélica Santos M,J Luis Pérez B,Francisco Santa María V,Lorena Hertrampf D,Eva Cortés M,Fanny
author_sort	Nitsche V,Felipe
title	Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normales
title_short	Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normales
title_full	Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normales
title_fullStr	Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normales
title_full_unstemmed	Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normales
title_sort	frecuencia del polimorfismo c677t de la 5, 10-metilentetrahidrofolato reductasa (mthfr) en mujeres chilenas madres de afectados con espina bífida y en controles normales
publisher	Sociedad Médica de Santiago
publishDate	2003
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003001200006
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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

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