Article
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
The New England journal of medicine - 5 Jul 1990
Triggs-Raine B L, Feigenbaum A S, Natowicz M, Skomorowski M A, Schuster S M, Clarke J T, Mahuran D J, Kolodny E H, Gravel R A
Abstract excerpt
BACKGROUND AND METHODS: The prevention of Tay-Sachs disease (GM2 gangliosidosis, type 1) depends on the identification of carriers of the gene for this autosomal recessive disorder. We compared the enzyme-based test widely used in screening for Tay-Sachs disease with a test based on analysis of DNA. We developed methods to detect the three mutations in the HEXA gene that occur with high frequency among Ashkenazi...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.