Molecular analysis of the 5'-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants

Osborn, M., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Upadhyaya, Meena 2000. Molecular analysis of the 5'-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants. Clinical Genetics 57 (3) , pp. 221-224. 10.1034/j.1399-0004.2000.570308.x

Full text not available from this repository.

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General) R Medicine > RZ Other systems of medicine
Publisher:	Wiley-Blackwell
ISSN:	0009-9163
Last Modified:	25 Oct 2022 10:13
URI:	https://orca.cardiff.ac.uk/id/eprint/61434

Citation Data

Cited 7 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item