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. 1990 May;46(5):902-5.

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

A Zimran  1 , T Gelbart, E Beutler
Affiliations

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

A Zimran et al. Am J Hum Genet. 1990 May.

Abstract

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 substitution at position 3931 of the active gene. By analyzing 54 unrelated Gaucher patients we show strong linkage disequilibrium between the Pv1.1- genotype and the common Jewish mutation 1226 causing the adult type of this disease. Gaucher disease patients heterozygous for the 1226 allele and one unidentified allele (1226/?), particularly those of Jewish ancestry, were predominantly of the Pv1.1-/PV1.1+ genotype. This suggests that one of the unknown alleles may be relatively common and linked to the Pv1.1+ genotype.

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