A gel electrophoretic assay for detecting the insertion defect in Ashkenazi Jewish carriers of Tay-Sachs disease.

doi:10.1016/0003-2697(90)90593-x

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Article

A gel electrophoretic assay for detecting the insertion defect in Ashkenazi Jewish carriers of Tay-Sachs disease.

Analytical biochemistry - 1 Apr 1990

Shore S, Myerowitz R

Abstract excerpt

A simple, rapid, nonradioactive assay for detecting the 4-bp insertion defect found in the beta-hexosaminidase alpha-chain gene of 70% of the Ashkenazi Jewish carriers of Tay-Sachs disease is described. In this assay, DNA derived from such carriers serves as a template for the polymerase chain re...

Topics

Base Sequence
DNA
Electrophoresis, Agar Gel
Genetic Carrier Screening
Humans
Jews
Mutation
Polymerase Chain Reaction
Tay-Sachs Disease

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