IDENTIFICATION OF HUMAN PLASMA CHOLINESTERASE VARIANTS USING MOLECULAR BIOLOGICAL TECHNIQUES

Genetic variation is one of several factors determining the level and quality of plasma cholinesterase activity (butyrylcholinesterase, BChE ). The many genetic variants known today, and the resulting large numb er of genotypes and phenotypes, have complicated the problem of identi fying individual BChE genotypes and phenotypes on the basis of enzymat ic analyses alone. Modern molecular biological techniques have, howeve r, permitted the development of diagnostic tests which allow BChE vari ants to be identified at the DNA level. Today, at least 20 genetic var iants have been identified in this way. This review is an introduction to the principles of molecular biology used to identify the variants forms of the BCHE gene.