Gaucher's disease: detection of a new mutation in intron 2...

Details Gaucher's disease: detection of a new mutation in intron 2... Gaucher's disease: detection of a new mutation in intron 2...

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2089351

ABSTRACT A method for detecting a new Gaucher disease mutation in an allele in a human having a point mutation of an adenine nucleotide substituted for a guanine nucleotide at nucleotide position 1 in the normal glucocerebrosidase gene intron 2 is provided. Identification of the mutation is accomplished by first amplifying, with a polymerase chain reaction (PCR) primer, a region of human genomic DNA containing nucleotide position 1 of glucocerebrosidase gene intron 2 followed by detection of the mutation. A\C:\APPL\SCRO670P.APP/AF

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