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Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on TaqMan® real-time PCR Genet. Mol. Biol.
Godinho,Fernanda Marques de Souza; Bock,Hugo; Gheno,Tailise Conte; Saraiva-Pereira,Maria Luiza.
Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in the survival motor neuron I (SMN1) gene. SMA patients are classified as type I-IV based on severity of symptoms and age of onset. About 95% of SMA cases are caused by the homozygous absence of SMN1 due to gene deletion or conversion into SMN2. PCR-based methods have been widely used in genetic testing for SMA. In this work, we introduce a new approach based on TaqMan® real-time PCR for research and diagnostic settings. DNA samples from 100 individuals with clinical signs and symptoms suggestive of SMA were analyzed. Mutant DNA samples as well as controls were confirmed by DNA sequencing. We detected 58 SMA cases (58.0%) by showing deletion of SMN1 exon 7....
Tipo: Info:eu-repo/semantics/article Palavras-chave: SMA; SMN1 gene; Gene conversion; Molecular analysis.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000600010
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