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.

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@article{Boye1991MajorRI, title={Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome.}, author={Eileen Boye and David Vetrie and Frances A. Flinter and B. G. Buckle and Taina A Pihlajaniemi and Eija Hamalainen and Jeanne C. Myers and Mark Bobrow and Ann R Harris}, journal={Genomics}, year={1991}, volume={11 4}, pages={1125-32} }