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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.

Type

Journal article

Journal

Genomics

Publication Date

12/1991

Volume

11

Pages

1125 - 1132

Keywords

Base Sequence, Blotting, Southern, Collagen, DNA, Electrophoresis, Gel, Pulsed-Field, Female, Gene Rearrangement, Humans, Male, Molecular Sequence Data, Mutation, Nephritis, Hereditary, Polymerase Chain Reaction, Restriction Mapping, X Chromosome