Article
Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase.
American journal of human genetics - 1 Oct 1992
Nogueira C P, Bartels C F, McGuire M C, Adkins S, Lubrano T, Rubinstein H M, Lightstone H, Van der Spek A F, Lockridge O, La Du B N
Abstract excerpt
The fluoride variant of human butyrylcholinesterase owes its name to the observation that it is resistant to inhibition by 0.050 mM sodium fluoride in the in vitro assay. Individuals who are heterozygous for the fluoride and atypical alleles experience about 30 min of apnea, rather than the usual 3-5 min, after receiving succinyldicholine. Earlier we reported that the atypical variant has a nucleotide...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Butyrylcholinesterase
- Cholinesterase Inhibitors
- DNA
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation