Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. |
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| Authors: | E Boye D Vetrie F Flinter B Buckle T Pihlajaniemi E R Hamalainen J C Myers M Bobrow A Harris |
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| Institution: | Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London, United Kingdom. |
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| 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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