High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

Article

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

American journal of human genetics - 1 Oct 1991

Zimran A, Gelbart T, Westwood B, Grabowski G A, Beutler E

Abstract excerpt

Reliable estimates of the frequency of Gaucher disease-producing mutations are not available. The high frequency of Gaucher disease in the Ashkenazi Jewish population is due to the occurrence of a mutation at nucleotide (nt) 1226. We have screened 593 DNA samples from normal Ashkenazi Jews, as we...

Topics

Adolescent
Adult
Aged
Gaucher Disease
Gene Frequency
Genetic Testing
Heterozygote
Humans
Jews
Middle Aged
Mutation
Tay-Sachs Disease

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