Gaucher's disease: detection of a new mutation in intron 2 of the glucocerebrosidase gene

摘要

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.