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)

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 > School of Cancer Sciences
• Journal Name: Genomics
• Publisher: Elsevier
• ISSN: 0888-7543
• ISSN (Online): 1089-8646