title: DNA rearrangements in the alpha 5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: further refinement using pulsed-field gel electrophoresis.
abstract: 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.
authors.affiliation: Paediatric Research Unit, United Medical School, Guy's Hospital, London, United Kingdom.
authors.forename: D
authors.initials: D
authors.lastname: Vetrie
authors.forename: E
authors.initials: E
authors.lastname: Boye
authors.forename: F
authors.initials: F
authors.lastname: Flinter
authors.forename: M
authors.initials: M
authors.lastname: Bobrow
authors.forename: A
authors.initials: A
authors.lastname: Harris
mesh_terms: D002874:Chromosome Mapping; D003094:Collagen / Q000235:genetics*; D016521:Electrophoresis, Gel, Pulsed-Field; D004720:Endonucleases / Q000378:metabolism; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics*; D015183:Restriction Mapping
chemical_list: D003094:Collagen; D004720:Endonucleases