Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

Article

Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

American journal of human genetics - 1 May 1990

Zimran A, Gelbart T, Beutler E

Abstract excerpt

We have localized the PvuII polymorphism of the glucocerebrosidase gene complex to intron 6 of the active gene. Using the polymerase chain reaction (PCR) to amplify intron 6 of DNA samples from Pv1.1-/Pv1.1+ individuals, we defined the mutation causing this polymorphism as a G----A single-base su...

Topics

Cell Line
DNA
Deoxyribonucleases, Type II Site-Specific
Gaucher Disease
Gene Amplification
Genotype
Humans
Jews
Mutation
Polymorphism, Restriction Fragment Length

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