title: Molecular analysis of the 5'-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants.
abstract: Dideoxy fingerprinting was used to analyse the 5' flanking region of the neurofibromin (NF1) gene in a panel of 380 neurofibromatosis type 1 (NF1) patients. Five polymorphisms/rare variants were identified at positions -412, - 402, + 16, + 25 and + 132, but control data indicated that these were unlikely to be of pathological significance. Promoter mutations in the NF1 gene are not, therefore, a common cause of NF1. This notwithstanding, a reporter gene assay was performed to determine if these variants could affect the expression of the NF1 gene, and all three changes in the 5'-untranslated region (UTR) (+ 16, + 25, + 132) were found to be associated with a 60-70% increase in reporter gene expression.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: M
authors.initials: M
authors.lastname: Osborn
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
mesh_terms: D016172:DNA Fingerprinting; D004252:DNA Mutational Analysis; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D006367:HeLa Cells; D006801:Humans; D008156:Luciferases / Q000378:metabolism; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010957:Plasmids; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D014162:Transfection
chemical_list: D008156:Luciferases