Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)
| Autor: | Felipe Moreno, Concepción Hernández-Chico, M C Valero, Eladio Velasco |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Mutation rate Neurofibromatosis 1 Transcription Genetic Nonsense mutation DNA Mutational Analysis Molecular Sequence Data Biology Exon Genes Neurofibromatosis 1 Genetics medicine Humans Point Mutation Amino Acid Sequence Neurofibromatosis Codon Molecular Biology Gene Genetics (clinical) Sequence Deletion Gel electrophoresis Base Sequence Point mutation General Medicine Exons medicine.disease Molecular biology Pedigree Electrophoresis Polyacrylamide Gel Female Temperature gradient gel electrophoresis |
| Zdroj: | Human molecular genetics. 3(4) |
| ISSN: | 0964-6906 |
| Popis: | Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders. The gene responsible for the disease has a very high mutation rate, approximately fifty per cent of NF1 patients appear to have a de novo mutation. The search for mutations is hampered by the large size of the NF1 gene and up to date, relatively few mutations have been characterized. In the present work, we report the results of screening seventy unrelated NF1 patients for mutations in NF1 exons 29 and 31 by using an experimental approach that combines the polymerase chain reaction (PCR) with denaturing gradient gel electrophoresis (DGGE). Four mutations were identified and characterized. Three of them consist of C-T transitions resulting in nonsense mutations, two in exon 29, C5242T and C5260T, and one in exon 31, C5839T. The fourth mutation consists of a two-base pair deletion in exon 31, 5843delAA, also resulting in a premature stop codon. The finding in our patients of mutation C5839T, previously reported in three independent studies, supports that this position is a hotspot within the NF1 gene. |
| Databáze: | OpenAIRE |
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