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Alport syndrome (AS), an X-linked kidney disorder, has been shown to be caused by mutations in the gene for the alpha 5-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 alpha 5(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 alpha 5(IV) gene. A second mutation has been shown to be a direct duplication of 35 kb of alpha 5(IV) genomic DNA, and a third mutation involves a complex insertion/deletion event resulting in an overall loss of 25 kb.

Type

Journal article

Journal

Genomics

Publication Date

11/1992

Volume

14

Pages

624 - 633

Keywords

Chromosome Mapping, Collagen, Electrophoresis, Gel, Pulsed-Field, Endonucleases, Gene Rearrangement, Humans, Male, Nephritis, Hereditary, Restriction Mapping