Assay for a new gaucher disease mutation

Details Assay for a new gaucher disease mutation Assay for a new gaucher disease mutation

1991-09-27

1993-08-10

Zitomer, Stephanie W.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 91, 935 77, 935 78, 536 231, C12Q 168, C07H 1512

Patent

active

052348113

ABSTRACT:
A method for detecting a new Gaucher disease mutation in an allele in a human having an insertion mutation of a guanine nucleotide adjacent to nucleotide position 57 in the normal glucocerebrosidase gene exon 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 positions 57 and 58 of glucocerebrosidase gene exon 2 followed by detection of the mutation.

REFERENCES:
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