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Presence of the G1138A mutation in the FGFR3 coding gene in a group of Cuban achondroplasia patients

Abstract:

Achondroplasia, inherited as an autosomal dominant trait, is the most common human skeletal dysplasia. Prevalence at birth in Cuba was estimated in 1/25 000. Achondroplasia locus was assigned to chromosome 4p16.3 and includes the coding region for fibroblast growth factor receptor 3 (FGFR3). Two point mutations in exon 10 of the FGFR3 gene (G1138A and G1138C) have been described. These mutations create new restriction sites for Sfc1 (the most frequent mutation) and Msp1. Genomic DNA isolated from blood samples of 40 Cuban patients (24 relatives and 16 sporadic cases) was studied. A region of 164 bp that includes the transmembrane domain of FGFR3 was amplified by PCR and the amplicons were analized with the restriction enzimes Sfc1 and Msp1. All affected individuals showed fragment sizes of 109 and 55 bp corresponding to the digestion by Sfc1; therefore, they had the same mutation G1138A.