Búsqueda de selección en el polimorfismo 677C>T (c.665C>T) del gen de la metilentetrahidrofolato reductasa (MTHFR) en una población Colombiana
| Contribuinte(s) |
Martínez-Agüero, María |
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| Data(s) |
19/06/2014
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| Resumo |
Se realizó un estudio genético – poblacional en dos grupos etarios de población colombiana con la finalidad de evaluar las diferencias genéticas relacionadas con el polimorfismo MTHFR 677CT en busca de eventos genéticos que soporten la persistencia de este polimorfismo en la especie humana debido que este ha sido asociado con múltiples enfermedades. De esta manera se genotipificaron los individuos, se analizaron los genotipos, frecuencias alélicas y se realizaron diferentes pruebas genéticas-poblacionales. Contrario a lo observado en poblaciones Colombianas revisadas se identificó la ausencia del Equilibrio Hardy-Weinberg en el grupo de los niños y estructuras poblacionales entre los adultos lo que sugiere diferentes historias demográficas y culturales entre estos dos grupos poblacionales al tiempo, lo que soporta la hipótesis de un evento de selección sobre el polimorfismo en nuestra población. De igual manera nuestros datos fueron analizados junto con estudios previos a nivel nacional y mundial lo cual sustenta que el posible evento selectivo es debido a que el aporte de ácido fólico se ha incrementado durante las últimas dos décadas como consecuencia de las campañas de fortificación de las harinas y suplementación a las embarazadas con ácido fólico, por lo tanto aquí se propone un modelo de selección que se ajusta a los datos encontrados en este trabajo se establece una relación entre los patrones nutricionales de la especie humana a través de la historia que explica las diferencias en frecuencias de este polimorfismo a nivel espacial y temporal. A genetic - population study was conducted into two age groups from Colombian population in order to assess genetic differences related to the MTHFR 677C>T for genetic events that support the persistence of this polymorphism in human species because this has been associated with multiple diseases. Thus individuals were genotyping, genotypes and allele frequencies were analyzed and different genetic-population tests were performed. Contrary to what was observed in Colombian populations checked before the absence of Hardy-Weinberg equilibrium in the group of children and population structures among adults suggesting different demographic and cultural histories between these two population groups at the time, which supports the hypothesis about a selection event on this polymorphism in our population. Similarly our data were analyzed together with previous studies at national and global level which supports the possible selective event is caused by the contribution of folic acid that has increased over the past two decades as a result of campaigns fortification flour and supplementation with folic acid pregnant, therefore in this work is proposed a selection model that fits the data found and explaining the relationship between nutritional patterns of the human species through the story explaining the aims set differences in frequencies of this polymorphism to spatial and temporal level. |
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application/pdf |
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spa |
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Facultad de medicina |
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info:eu-repo/semantics/openAccess |
| Fonte |
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| Palavras-Chave | #610 #Genética #Polimorfismo #Genes #MTHFR #677C>T #Selection #Folate #Folic Acid |
| Tipo |
info:eu-repo/semantics/masterThesis info:eu-repo/semantics/acceptedVersion |
