Article
Phenotypic and molecular biological analysis of human butyrylcholinesterase variants.
Clinical biochemistry - 1 Oct 1990
La Du B N, Bartels C F, Nogueira C P, Hajra A, Lightstone H, Van der Spek A, Lockridge O
Abstract excerpt
Our laboratory has recently shown that several variant forms of human butyrylcholinesterase, associated with unusual sensitivity to succinylcholine, are caused by specific mutations within the structural DNA coding for this enzyme. Atypical (dibucaine-resistant) butyrylcholinesterase is caused by a point mutation at nucleotide position 209(GAT-- greater than GGT), which changes aspartate 70 to glycine. One...
Topics
- Alleles
- Butyrylcholinesterase
- DNA Mutational Analysis
- DNA, Single-Stranded
- Fluorides
- Genotype
- Humans
- Oligonucleotide Probes
- Phenotype