Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

Boye, E., Vetrie, D. , Flinter, F., Buckle, B., Pihlajaniemi, T., Hamalainen, E.-R., Myers, J. C., Bobrow, M. and Harris, A. (1991) Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome. Genomics, 11(4), pp. 1125-1132. (doi: 10.1016/0888-7543(91)90040-L) (PMID:1783380)

Full text not currently available from Enlighten.

Abstract

The gene coding for the α5 chain of type IV collagen (α5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3′ end of the α5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this gene. Each of these patients shows a gross rearrangement of DNA: a deletion of at least 35 kb, an insertion/deletion event involving approximately 25 kb, and a duplication of at least 35 kb of DNA.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Vetrie, Professor David
Authors: Boye, E., Vetrie, D., Flinter, F., Buckle, B., Pihlajaniemi, T., Hamalainen, E.-R., Myers, J. C., Bobrow, M., and Harris, A.
College/School:College of Medical Veterinary and Life Sciences > Institute of Cancer Sciences
Journal Name:Genomics
Publisher:Elsevier
ISSN:0888-7543
ISSN (Online):1089-8646

University Staff: Request a correction | Enlighten Editors: Update this record