E^h₁, a New Allele at Cholinesterase Locus 1

Abstract

Unusual inhibition characteristics in two unrelated suxamethonium-sensitive individuals were indicative of a new allele, E^h₁, segregating with the E^a₁gene. Family studies substantiate this hypothesis and three new genotypes are recognised.

Cholinesterase Its significance in anaesthetic practice

“…A new variation was discovered in 1987 by Whittaker & Britten [101] who had set up the Cholinesterase Research Unit at the Hammersmith Hospital in West London and thus bears the label H. Although this gene is very rare, it is associated with a drastic reduction in cholinesterase activity to the level one would expect with a silent gene.…”

Detection of the Plasma Cholinesterase K Variant by PCR Using an Amplification-Created Restriction Site

“…The lengths of the products are indicated. tant) (A), the fluoride-resistant (F), the silent (S) and the three quantitative, K, J and H, variants [5][6][7], The increasing number of pos sible genotypes has complicated the identifi cation of the different genotypes using only biochemical analyses, including inhibition tests [8 -13]. One of the new quantitative vari ants, the K variant, was first recognized by Rubinstein et al [6], In 1992, Bartels et al [14] determined the amino acid composition of this variant.…”

Identification of a Heterozygote for the Silent and Kalow Alleles of Cholinesterase using a Polymerase Chain Reaction Technique

“…The three siblings, III 2 4 have low total activities and we wished to determine what allele they had inherited from their mother. Whittaker 9 has reported that 'the E.h allele appears to be associated with a much more drastic reduction in enzymic activity (than Ell and Elk) such as that round in the silent genes'. The presence of the E,h allele was therefore considered very unlikely.…”