Frecuency of the allele causing the axonal form of autosomal recessive Charcot-Marie-Tooth in Palmares, Costa Rica

 

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Detalles Bibliográficos
Autores: Rojas-Araya, Melissa, Bonilla, Roger, Campos, Sergio, Centeno, Carolina, Del Valle, Christian, Pacheco, Juan Pablo, Saborío, Alina, Vega, Jovel, Fernández, Hubert, Leal, Alejandro
Formato: artículo original
Estado:Versión publicada
Fecha de Publicación:2009
Descripción:The Charcot-Marie-Tooth disease constitutes is among the most frequent hereditary peripheral neuropathies world-wide. We identified a family from Palmares (Alajuela, Costa Rica) with 18 affected members. Their neuropathy is axonal, with an autosomal recessive pattern of inheritance; the responsible gene is at the 19q13.33 chromosomal region. Later the mutation was identified in gene MED25. We studied the frequency and geographic distribution of the mutant allele. In a random sample of 103 individuals, six were heterozygote and were widely distributed in Palmares. There was no person in homozigote state for the mutant allele. Clinical characteristics do not differ significantly between individuals that are homozygous for the wildtype allele and individuals heterozygous for the mutation. A 5.83 % of the population is heterozygote and the frequency of the Ala335Val allele is 0.029, six times higher than in a sample of the Costa Rican population. We recommend a molecular analysis of carriers to detect additional cases in the region.
País:Portal de Revistas UCR
Institución:Universidad de Costa Rica
Repositorio:Portal de Revistas UCR
Lenguaje:Español
OAI Identifier:oai:portal.ucr.ac.cr:article/21409
Acceso en línea:https://revistas.ucr.ac.cr/index.php/rbt/article/view/21409
Access Level:acceso abierto
Palabra clave:enfermedad de Charcot-Marie-Tooth
CMT
HMSN
CMT2B2
frecuencia alélica
Costa Rica
Charcot-Marie-Tooth disease
allelic frequency