title: Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity.
abstract: 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.
authors.affiliation: I Med Klinik, Johannes Gutenberg-Universität Mainz, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Höhler
authors.forename: M
authors.initials: M
authors.lastname: Hundt
authors.forename: C
authors.initials: C
authors.lastname: Rittner
authors.forename: P M
authors.initials: PM
authors.lastname: Schneider
authors.forename: K H
authors.initials: KH
authors.lastname: Meyer zum Büschenfelde
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002802:Cholinesterases / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D003992:Dibucaine; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D008040:Genetic Linkage; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007597:Jordan; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D002802:Cholinesterases; D003992:Dibucaine