RESUMO
Limb-girdle muscular dystrophy 2D (LGMD2D) is caused by mutations in the alpha-sarcoglycan gene (SGCA). The most frequently reported mutation, 229CGC>TGC (R77C) in exon 3 of SGCA, results in the substitution of arginine by cysteine. We present here the clinical, immunohistochemical, and genetic data of 11 Finnish patients with LGMD2D caused by mutations in SGCA. Mutational analysis showed 10 patients homozygous and 1 compound heterozygous for R77C. A wide spectrum of SGCA mutations has been reported previously. Our results show an enrichment of R77C in Finland, further underlined by the observed carrier frequency of 1 per 150. According to the annual birth rate of approximately 60,000 in Finland, one LGMD2D patient with a homozygous mutation is expected to be born every 1 or 2 years on average. The presence of an ancient founder mutation is indicated by the fact that all patients shared a short common haplotype extending > or = 790 kilobases. Our results emphasize the need to include the SGCA gene R77C mutation test in routine DNA analyses of severe dystrophinopathy-like muscular dystrophies in Finland, and suggest that the applicability of this test in other populations should be studied as well.
Assuntos
Distrofia Muscular do Cíngulo dos Membros/genética , Mutação , Sarcoglicanas/genética , Adolescente , Adulto , Alelos , Criança , Intervalos de Confiança , Feminino , Finlândia , Haplótipos/genética , Humanos , MasculinoRESUMO
The dentist may prescribe biological examinations in periodontics in view of confirming the diagnosis of a general disease or preparing a therapeutical treatment. Biological tests are necessary to evaluate the activity of periodontal disease. Even if research is carried out at microbiological and immunological level and on the substances related to tissue wearing, only two examinations are possible today in clinics: optical microscopy, DNA probes.