Silent cholinesterase gene: variations in the properties of serum enzyme in apparent homozygotes

Abstract

A B S T R A C

Heterogeneity of the Silent Gene for Plasma Cholinesterase

“…It can be assumed that the structural modifi cation or disorientation of the cholinester ase molecules in these individuals restricts the binding of all 4 monoclonals to their antigenic sites. These findings of weaker than normal affinity of the antibodies sup port the observations of Rubinstein et al [1970] and suggest that this group may be type II, which is controlled by the Ej gene, and probably represent the homozygotes EjEV Our third group of patients (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22) show definite but low levels of immunoreactive protein -in fact, intermediate between our first and second groups of patients. The enzymic activity, by either substrate, in this third group is less than that found in our secound group.…”

“…it has been recognised for many years that the so-called 'silent gene' represents a heterogeneous complex [Goedde and Altland, 1968;Rubinstein et al, 1970], At present, 3 separate genes, Ej, E\ and Ei, have been described [Scott, 1973;Scott and Wright, 1976], The relative affinities for different substrates [Altland and Goedde, 1970], electrophoresis [Rubin stein et al, 1970] as well as immunodiffu sion [Goedde and Atland, 1968;Rubin stein et al, 1975] have been used to differ entiate the different variants. Our current results using an ELISA technique with 4 different monoclonal and the sheep conju gated polyclonal antibodies are in close agreement with those obtained by rocket electrophoresis (table 1) using the 3 un conjugated polyclonals.…”

Cholinesterase Its significance in anaesthetic practice

“…Rubinstein et al [95] proposed the idea that there are several silent genes to explain their findings of accurate enzymatic evaluations on 25 supposed silent homozygotes. Continuing their work on Alaskan Eskimos, Scott & Wright have identified these allelic genes and labelled them S (silent), T (trace) and R (residual) [96,97].…”

Suxamethonium Sensitivity and Segregation of Human Serum Cholinesterase Variants at Locus(Ch₁) Among Twelve British Families

“…At this point, one has to remember that ( I ) this may not always be true: e.g.. 4 in dividuals of Ch1 / Ch1 , have relatively low enzyme activity, and (2) individuals possessing Ch* could reveal biochemically different types of phenotypic expression depending upon the techniques employed (since various workers demonstrated the complex nature of the 'silent' cholinesterase variants [3,4,14]. This can only be better understood when investigations are carried Copies of the complete pedigrees may be obtained from the author.…”