Your browser doesn't support javascript.
loading
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
Rochette, C F; Surh, L C; Ray, P N; McAndrew, P E; Prior, T W; Burghes, A H; Vanasse, M; Simard, L R.
Afiliação
  • Rochette CF; Department of Genetics, Hôpital Sainte-Justine, Montréal, Québec, Canada.
Neurogenetics ; 1(2): 141-7, 1997 Sep.
Article em En | MEDLINE | ID: mdl-10732817
ABSTRACT
The telomeric survival motor neuron (SMN(T)) gene is a valuable molecular diagnostic tool for childhood-onset spinal muscular atrophy (SMA) as homozygous deletions of SMN(T) exon 7 (delta7SMN(T)) are present in approximately 94% of patients. In this report, we provide the first comprehensive study of 32 unrelated non-deletion SMA patients. Quantitative polymerase chain reaction (PCR) studies established that 90% had two intact copies of SMN(T) exon 7 suggesting that these patients do not have 5q SMA. Once 5q SMA is confirmed, the SMN(T) gene can be screened for subtle mutations. Using single strand conformation analysis, we identified two missense mutations (P245L and Y272C) in exon 6 of the SMN(T) gene of two SMA patients shown to have a single copy of SMN(T) exon 7. Y272 is most likely critical for SMN(T) function as it is a target for recurring mutations and is associated with type I SMA. These results emphasize the need for dosage analysis in the differential diagnosis of 5q SMA in nondeletion patients, consistent with extensive clinical heterogeneity and some genetic heterogeneity in this disease. Homozygosity or heterozygosity for a delta7SMN(T) allele confirms the diagnosis of 5q SMA with greater precision than clinical examination alone.
Assuntos
Buscar no Google
Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Éxons / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 1997 Tipo de documento: Article País de afiliação: Canadá
Buscar no Google
Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Éxons / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 1997 Tipo de documento: Article País de afiliação: Canadá