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Tipo de material : bachelorThesis
Título : Estado de la mutación del gen IT-15 (HTT) en familias ecuatorianas con enfermedad de Huntington
Autor : Pavón Realpe, Victor Hugo
Tutor : Paz y Miño Cepeda, César Antonio
Palabras clave : ENFERMEDAD DE HUNTINGTON;NEURODEGENERACIÓN;AUTOSÓMICA DOMINANTE;TRINICLEÓTIDO
Fecha de publicación : 2015
Editorial : Quito: Universidad de las Américas, 2015
Citación : Pavón Realpe, V. H. (2015). Estado de la mutación del gen IT-15 (HTT) en familias ecuatorianas con enfermedad de Huntington (Tesis de pregrado). Universidad de las Américas, Quito.
Resumen : La Enfermedad de Huntington “EH” es un trastorno neurodegenerativo autosómico dominante que afecta a 1 de cada 10.000 habitantes...
Descripción : Huntington disease (HD) is a progressive neurodegenerative disorder with an autosomal dominant inheritance that affects 1 per 10.000 individuals. It is caused by the IT-15 gene on chromosome 4p16.3 that has, in its first exon, an unstable expansion of (CAG)n trinucleotide which encodes a polyglutamine region in huntingtin; the expansion promotes neurodegeneration. This first descriptive study was focused on evaluating the CAG trinucleotide expansion in Ecuadorian affected individuals and their family members at risk in order to enclose the first approximation of the disease status in Ecuador. Through PCR, nested PCR and automatic sequencing, we have genotyped 42 individuals from nine Ecuadorian families clinically diagnosed with HD. Twenty-eight people tested positive for the mutation with an average CAG number of the expanded allele of 57 ± 7.9 (49-78), seven of which have not thus far presented chorea. The average repeats of the normal alleles were 24 ± 8.4 (15-28). Two individual swath 32 and 37 repeats showed moderately expanded alleles while a single case was found to be de novo with 53 CAG. An inverse relationship between the number of repeats and age of onset of symptoms was observed. Generational instability was transmitted in 21.4 percent of the cases with notable instability in paternal inheritance in one case…
URI : http://dspace.udla.edu.ec/handle/33000/3221
Aparece en las colecciones: Medicina

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