Allele-Specific Amplification for the Diagnosis of Autosomal Recessive Spinal Muscular Atrophy
| Autor: | Ravard-Goulvestre C, Brigitte Estournet, Mathieu B, de Mazancourt P, A. Barois, Louis Viollet, Boucly C, Van Amerongen G |
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| Rok vydání: | 1999 |
| Předmět: |
Genetics
Mutation Base Sequence Pseudogene Biochemistry (medical) Clinical Biochemistry Genes Recessive General Medicine Spinal muscular atrophy SMN1 Biology medicine.disease_cause medicine.disease Spinal muscular atrophies Polymerase Chain Reaction Muscular Atrophy Spinal Exon Gene duplication Multiplex polymerase chain reaction medicine Humans Alleles DNA Primers Fluorescent Dyes |
| Zdroj: | cclm. 37:133-135 |
| ISSN: | 1434-6621 |
| Popis: | The SMN1 gene is homozygously deleted for at least exon 7, interrupted or converted to a non-functional telomeric copy in most cases of proximal spinal muscular atrophies. The presence of a pseudogene hampers direct detection of the exon 7 deletion. We describe a method for the detection of the of exon 7 deletion, based on the amplification refractory mutation system (ARMS), in a multiplex PCR with fluorescent-labelled primers. The gene and pseudogene amplification products differ in the dye bound and in their size, which allows distinction of both products on electrophoresis. The pseudogene is used as an internal control, and this method gives a clear and specific pattern for the patients. Amplification is achieved with 30 cycles, and specificity is retained up to 40 cycles. |
| Databáze: | OpenAIRE |
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