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Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity.
  1. T Höhler,
  2. M Hundt,
  3. C Rittner,
  4. P M Schneider,
  5. K H Meyer zum Büschenfelde
  1. I Med Klinik, Johannes Gutenberg-Universität Mainz, Germany.

    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.

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