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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...

Topics

Alleles
DNA
False Positive Reactions
Genetic Carrier Screening
Hexosaminidases
Humans
Jews
Polymerase Chain Reaction
Tay-Sachs Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 2355960
DOI: 10.1056/NEJM199007053230102

Genes

HEXA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2355960-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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