DNA rearrangements in the α5(IV) collagen gene (COL4A5) of individuals with alport syndrome: further refinement using pulsed-field gel electrophoresis

Vetrie, D. , Boye, E., Flinter, F., Bobrow, M. and Harris, A. (1992) DNA rearrangements in the α5(IV) collagen gene (COL4A5) of individuals with alport syndrome: further refinement using pulsed-field gel electrophoresis. Genomics, 14(3), pp. 624-633. (doi: 10.1016/S0888-7543(05)80161-2) (PMID:1330889)

Abstract

Alport syndrome (AS), an X-linked kidney disorder, has been shown to be caused by mutations in the gene for the α5-chain of type IV collagen (COL4A5), which maps to Xq22. On the basis of the results of conventional Southern blot analysis of AS patient DNAs, we employed pulsed-field gel electrophoresis to characterize further three gene rearrangements at the 3′-end of α5(IV). We were able to construct long-range restriction maps for all three of these patients and deduce the extent and nature of each rearrangement. One of these mutations is a 450-kb simple deletion that includes 12 kb of the α5(IV) gene. A second mutation has been shown to be a direct duplication of 35 kb of α5(IV) genomic DNA, and a third mutation involves a complex insertion/deletion event resulting in an overall loss of 25 kb.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Vetrie, Professor David
• Authors: Vetrie, D., Boye, E., Flinter, F., 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