Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome.
Boye E., Vetrie D., Flinter F., Buckle B., Pihlajaniemi T., Hamalainen ER., Myers JC., Bobrow M., Harris A.
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.