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Article

Allele-specific amplification of genomic DNA for detection of deletion mutations: identification of a French-Canadian Tay-Sachs mutation.

Journal of inherited metabolic disease - 1 Jan 1991

Kaplan F, Boulay B, Bayleran J, Hechtman P

Abstract excerpt

A rapid and efficient method for the detection of a 7.6-kb deletion in the beta-hexosaminidase A alpha-subunit gene, a mutant allele causing Tay-Sachs disease in French Canadians, is described. The protocol involves PCR (polymerase chain reaction) amplification of target sequences on normal and mutant chromosomes. Three amplification primers, a single 5' primer complementary to normal and mutant DNA templates and...

Topics

Alleles
Canada
Chromosome Deletion
DNA
France
Heterozygote
Homozygote
Mutation
Polymerase Chain Reaction
Tay-Sachs Disease
beta-N-Acetylhexosaminidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1838124
DOI: 10.1007/BF01799939

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1838124-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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