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)

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

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