Resumo

CASTRO, Ángela et al. Mutational analysis of achondroplasia in 20 Colombian patients. rev.fac.med. [online]. 2010, vol.58, n.3, pp.185-190. ISSN 0120-0011.

Background. Achondroplasia is the most common skeletal dysplasia, mainly affecting tubular bones, vertebrae and skull. This is an autosomal dominant syndrome with complete penetrance, due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Approximately 90% of the achondroplasia cases, are due to new mutations in the germ cells of otherwise normal fathers. Increased paternal age has been documented. It have been calculated a birth frequency of achondroplasia from 1:10.000 to 1:30.000. Most of the mutations causing achondroplasia (97%) is a transition G1138A in the transmenbranal domain of the gene. The rest is a transversion in the same nucleotide, G1138C. Rarely other mutations type are present. Objective. To detect the mutations causing achondroplasia in a group of Colombian patients. Materials and methods. 20 patients with clinical diagnosis of achondroplasia ware studied. The method, ARMS-PCR (Amplification Refractory Mutation System-Polymerase Chain Reaction) was used. This method employs two primers pairs to amplify, respectively. Results. 19 patients (95%), presented the mutation G1138A and one patient presented the mutation G1138C. Conclusions. Not withstanding achondroplasia has a conspicuous phenotype, distinguishable from other skeletal dysplasias, sometimes hypochondroplasia, due to mutations in the same FGFR3 gen, could be difficult to discriminate. For that reason the mutational analysis is fundamental for the correct classification of these allelic forms. Or eventually, from other skeletal dysplasias due to other genes.

Palavras-chave : DNA mutational analysis; achondroplasia; chromosome aberrations; mutation; phenotype.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )