Data/hora: 10/06/2024 16:02:11

Provedor de dados: | Genetics and Molecular Biology
País: | Brazil
Título: | Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on TaqMan® real-time PCR
Autores: | Godinho,Fernanda Marques de Souza; Bock,Hugo; Gheno,Tailise Conte; Saraiva-Pereira,Maria Luiza.
Data: | 2012-01-01
Ano: | 2012
Palavras-chave: | SMA; SMN1 gene; Gene conversion; Molecular analysis.
Resumo: | 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. Considering clinical information available from 56 of them, the patient distribution was 26 (46.4%) SMA type I, 16 (28.6%) SMA type II and 14 (25.0%) SMA type III. Results generated by the new method was confirmed by PCR-RFLP and by DNA sequencing when required. In conclusion, a protocol based on real-time PCR was shown to be effective and specific for molecular analysis of SMA patients.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000600010
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572012000600010
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.35 n.4 suppl.1 2012
Fonte: | info:eu-repo/semantics/openAccess