Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome.
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.
Boye
E
E
Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London, United Kingdom.
Vetrie
D
D
Flinter
F
F
Buckle
B
B
Pihlajaniemi
T
T
Hamalainen
E R
ER
Myers
J C
JC
Bobrow
M
M
Harris
A
A
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
D003094:Collagen; D004247:DNA