Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity.

doi:10.1136/jmg.32.2.109

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Article

Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity.

Journal of medical genetics - 1 Feb 1995

Höhler T, Hundt M, Rittner C, Schneider P M, Meyer zum Büschenfelde K H

Abstract excerpt

We have applied the technique of PCR-SSCP (polymerase chain reaction-single stranded conformation polymorphism) to characterise the molecular basis of cholinesterase deficiency and variants in a Jordanian family. PCR-SSCP proved to be a quick and sensitive method of screening cholinesterase variants in a clinical setting. An AG insertion at position 351 was found to cause a silent allele, for which the parents...

Topics

Adult
Alleles
Base Sequence
Cholinesterases
Dibucaine
Female
Frameshift Mutation
Genetic Linkage
Genetic Testing
Genotype
Humans
Jordan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Metabolism, Inborn Errors

Molecular Sequence Data

Pedigree

Point Mutation

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 7760318
DOI: 10.1136/jmg.32.2.109
PMCID: PMC1050230

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7760318-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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