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

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

1992-02-24

1993-11-30

Zitomer, Stephanie W.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 935 77, 935 78, 536 231, C12Q 168, C07H 1512

Patent

active

052664597

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.

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