title: Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome.
abstract: The gene coding for the alpha 5 chian of type IV collagen (alpha 5(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 alpha 5(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.
authors.affiliation: Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London, United Kingdom.
authors.forename: E
authors.initials: E
authors.lastname: Boye
authors.forename: D
authors.initials: D
authors.lastname: Vetrie
authors.forename: F
authors.initials: F
authors.lastname: Flinter
authors.forename: B
authors.initials: B
authors.lastname: Buckle
authors.forename: T
authors.initials: T
authors.lastname: Pihlajaniemi
authors.forename: E R
authors.initials: ER
authors.lastname: Hamalainen
authors.forename: J C
authors.initials: JC
authors.lastname: Myers
authors.forename: M
authors.initials: M
authors.lastname: Bobrow
authors.forename: A
authors.initials: A
authors.lastname: Harris
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D003094:Collagen / Q000235:genetics*; D004247:DNA; D016521:Electrophoresis, Gel, Pulsed-Field; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009394:Nephritis, Hereditary / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D014960:X Chromosome
chemical_list: D003094:Collagen; D004247:DNA