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Article

The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.

Clinica chimica acta; international journal of clinical chemistry - 24 Dec 1990

Beutler E, Gelbart T, West C

Abstract excerpt

The most common Gaucher disease-producing mutation among Ashkenazi Jews is an A----G substitution at cDNA nt 1226 (genomic nt 5841). We describe a simple method for detecting this mutation both in genomic DNA and in cDNA by performing polymerase chain reaction (PCR) using a 5'-primer mismatched at one nucleotide so as to create an Xho I restriction site. When the mutation is present. the 105 bp fragment formed is...

Topics

Base Sequence
Deoxyribonucleases, Type II Site-Specific
Gaucher Disease
Glucosylceramidase
Heterozygote
Homozygote
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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Identifiers

PMID: 2093469
DOI: 10.1016/0009-8981(90)90130-k

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2093469-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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