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Article

More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.

American journal of human genetics - 1 Nov 1990

Hechtman P, Kaplan F, Bayleran J, Boulay B, Andermann E, de Braekeleer M, Melançon S, Lambert M, Potier M, Gagné R

Abstract excerpt

Two Tay-Sachs disease (TSD) patients of French-Canadian origin were shown by Myerowitz and Hogikyan to be homozygous for a 7.6-kb deletion mutation at the 5' end of the hexosaminidase A alpha-subunit gene. In order to determine whether all French-Canadian TSD patients were homozygotes for the deletion allele and to assess the geographic origins of TSD in this population, we ascertained 12 TSD families of...

Topics

Alleles
Female
Genetic Carrier Screening
Humans
Incidence
Jews
Male
Mutation
Pedigree
Polymerase Chain Reaction
Quebec
Tay-Sachs Disease

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Identifiers

PMID: 2220821
PMCID: PMC1683681

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2220821-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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