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Molecular analysis of the 5′‐flanking region of the neurofibromatosis type 1 ( NF1 ) gene: identification of five sequence variants
Author(s) -
Osborn Mike,
Cooper David N.,
Upadhyaya Meena
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.570308.x
Subject(s) - neurofibromin 1 , 5' flanking region , genetics , gene , biology , neurofibromatosis , untranslated region , reporter gene , allele , mutation , three prime untranslated region , microbiology and biotechnology , gene expression , promoter , messenger rna
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.