Article
Novel mutation and multiple mutations found in the human butyrylcholinesterase gene.
Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2002
Liu Weidong, Cheng Jidong, Iwasaki Arata, Imanishi Hiroyasu, Hada Toshikazu
Abstract excerpt
BACKGROUND: Mutations in human butyrylcholinesterase (BChE) are linked to low BChE activity and abnormal response to muscle relaxants. METHODS: Twenty Chinese patients with hepatic disease and low cholinesterase activity, and one Japanese patient and her mother were tested for BChE activity and BChE phenotype. The butyrylcholinesterase (BCHE gene) was amplified by polymerase chain reaction (PCR) and sequenced....
Topics
- Adult
- Aged
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Base Sequence
- Butyrylcholinesterase
- Female
- Genotype
- Humans
- Kidney
- Liver Diseases
- Male
- Middle Aged
- Mutation
- Phenotype
- Phylogeny
- Polymerase Chain Reaction