Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.

doi:10.1136/jmg.34.1.83

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Article

Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.

Journal of medical genetics - 1 Jan 1997

Choy F Y, Linsey J, MacLeod P D

Abstract excerpt

Gaucher disease is the most prevalent lysosomal storage disease and it results from inherited deficient glucocerebrosidase activity. The glucocerebrosidase gene from normal people was sequenced by several laboratories and it was noted that a G or A nucleotide may be present at cDNA position 1601, resulting in 495arginine or 495histidine in the glucocerebrosidase polypeptide. In order to rule out the possibility...

Topics

Alleles
British Columbia
DNA
Gaucher Disease
Genetic Testing
Genetics, Population
Glucosylceramidase
Humans
Molecular Epidemiology
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Prevalence

Source

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Identifiers

PMID: 9032656
DOI: 10.1136/jmg.34.1.83
PMCID: PMC1050853

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