Fanconi anemia gene for complementation group c

Details Fanconi anemia gene for complementation group c Fanconi anemia gene for complementation group c

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A61K 31/70 (2006.01) A61K 39/395 (2006.01) A61K 48/00 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12N 5/10 (2006.01) C12N 15/00 (2006.01) C12N 15/869 (2006.01) C12P 21/08 (2006.01) C12Q 1/68 (2006.01) G01N 33/566 (2006.01) G01N 33/577 (2006.01) A61K 39/00 (2006.01)

Patent

CA 2134678

2134678 9322435 PCTABS00027 Fanconi Anemia is a human genetic disease, the precise cause of which is, to date, unknown. This invention provides an isolated human cDNA molecule which is able to specifically complement, in one type of Fanconi Anemia, the characteristic defect exhibited by cells derived from patients with Fanconi Anemia. The genomic gene from which this cDNA is derived is also provided as is the sequence of the protein encoded by this gene. Mutations in this gene are proposed to underlie this type of Fanconi Anemia. Diagnostic and therapeutic applications which derive from this work are described. The murine homolog of the human cDNA is also provided.

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