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Título: New Approaches in the Molecular Diagnosis and Population Carrier Screening for Spinal Muscular Atrophy
Autor: Gonçalves-Rocha, Miguel
Oliveira, Jorge
Rodrigues, Luísa
Santos, Rosário
Palavras-chave: Doenças Genéticas
Epidemiologia Clínica
Tecnologias de Análise de DNA
Issue Date: May-2011
Editora: Mary Ann Liebert
Citação: Genet Test Mol Biomarkers. 2011 May;15(5):319-26. Epub 2011 Feb 17
Resumo: Autosomal recessive spinal muscular atrophy, the leading genetic cause of infant death, is due to loss of functional SMN1 genes, mainly as a result of homozygous deletions. Carrier frequency in the general population varies widely from 1/50 to 1/125 and has significant counseling implications. In a cohort of 210 patients with spinal muscular atrophy confirmed at the molecular level, 91.9% had a homozygous deletion and 14 were compound heterozygotes. Two novel point mutations were detected (c.524delC and c.734dupC) and the 11 bp duplication c.770_780dup was found at a high frequency. We describe the development of a simple and robust method for homozygous deletion detection, which enabled us to simplify the diagnostic workup. Further, carrier frequency in our population was established by direct quantification with the commercially available MLPA kit, following optimization for the use of dried blood spots as sample specimens.
Arbitragem científica: yes
ISSN: 1945-0265
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Appears in Collections:DGH - Artigos em revistas internacionais

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