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RESEARCH PRODUCT
Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity.
Matthias HundtThomas HöhlerK H Meyer Zum BüschenfeldePeter M. SchneiderCh. Rittnersubject
AdultMaleGenotypeGenetic LinkageMolecular Sequence DataDibucainePolymerase Chain ReactionFrameshift mutationlaw.inventionlawGenetic linkageGenotypeGeneticsCholinesterasesHumansPoint MutationGenetic TestingAlleleFrameshift MutationGenetics (clinical)PolymerasePolymerase chain reactionAllelesPolymorphism Single-Stranded ConformationalCholinesteraseGeneticsJordanbiologyBase SequencePoint mutationSequence Analysis DNAMolecular biologyPedigreebiology.proteinFemaleMetabolism Inborn ErrorsResearch Articledescription
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 were heterozygous and three children homozygous. In addition, the father and two sons were heterozygous for an A to G transition at position 209, known to cause the dibucaine resistant variant. No linkage to the K variant was found, which has been reported previously in white populations. These findings suggest considerable homogeneity in the molecular basis of CHE variants between different ethnic groups.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1995-02-01 | Journal of medical genetics |