Frecuency of the allele causing the axonal form of autosomal recessive Charcot-Marie-Tooth in Palmares, Costa Rica
Tallennettuna:
| Tekijät: | , , , , , , , , , |
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| Aineistotyyppi: | artículo original |
| Tila: | Versión publicada |
| Julkaisupäivä: | 2009 |
| Kuvaus: | 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. |
| Maa: | Portal de Revistas UCR |
| Organisaatio: | Universidad de Costa Rica |
| Repositorio: | Portal de Revistas UCR |
| Kieli: | Español |
| OAI Identifier: | oai:portal.ucr.ac.cr:article/21409 |
| Linkit: | https://revistas.ucr.ac.cr/index.php/rbt/article/view/21409 |
| Sanahaku: | enfermedad de Charcot-Marie-Tooth CMT HMSN CMT2B2 frecuencia alélica Costa Rica Charcot-Marie-Tooth disease allelic frequency |