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

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

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 w...

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Butyrylthiocholine Assay for Identification of Cholinesterase Variants

Two unusual variants of cholinesterase (acylcholineacylhydrolase, 3.1.1.8) have been recognized by the use of differential inhibitors (Kalow and Genest, 1957; Harris and Whittaker, 1961). A third variant, the silent gene, determines an absent or greatly reduced serum cholinesterase level in the affected homozygote (Liddell, Lehmann, and Silk, 1962). These variants are alleles, and the affected ...

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The inhibitory effect of (+/-) propranolol 1.69 x 10(-4)-1.69 x 10(-7) mol litre-1 on normal and atypical plasma cholinesterase variants was investigated. The atypical enzyme is less sensitive to inhibition by (+/-) propranolol or either of its enantiomorphs than the usual enzyme. Propranolol 8.45 x 10(-6) mol litre-1 was used as differential inhibitor of 643 plasma samples from individuals of ...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1995

ISSN: 1468-6244

DOI: 10.1136/jmg.32.2.109