Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity

Butyrylcholinesterase (BCHE) deficiency is characterized by prolonged apnea after the use of certain muscle relaxants with the genetic defect lying in the BCHE gene. Two Chinese patients with no serum BCHE activity were studied. The BCHE genes were screened for mutations by polymerase chain reaction...

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Bibliographic Details
Published in:Clinica chimica acta 2005, Vol.351 (1), p.155-159
Main Authors: On-Kei Chan, Angel, Lam, Ching-Wan, Tong, Sui-Fan, Man Tung, Cheng, Yung, Kwok, Chan, Yan-Wo, Au, Kam-Ming, Yuen, Yuet-Ping, Hung, Chi-Tim, Ng, Kin-Pong, Shek, Chi-Chung
Format: Article
Language:English
Subjects:
Butyrylcholinesterase
Butyrylcholinesterase - deficiency
Butyrylcholinesterase - genetics
DNA - genetics
DNA Mutational Analysis
DNA Primers
Electrophoresis, Polyacrylamide Gel
Exons - genetics
Genetic Testing
Genotype
Heterozygote
Hong Kong
Humans
Mutation
Mutation - genetics
Phenotype
Reverse Transcriptase Polymerase Chain Reaction
Terminology as Topic
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Summary:Butyrylcholinesterase (BCHE) deficiency is characterized by prolonged apnea after the use of certain muscle relaxants with the genetic defect lying in the BCHE gene. Two Chinese patients with no serum BCHE activity were studied. The BCHE genes were screened for mutations by polymerase chain reaction and direct DNA sequencing. Of the four mutations detected, two novel mutations were identified in the two patients, i.e., F474L, and an insertion of an adenine between nucleotide positions 395 and 396. This information was used to screen the immediate families of the patients for carrier status. We established the molecular basis of butyrylcholinesterase deficiency in two Chinese patients. The developed mutation detection assay provides a reliable method for identifying mutant BCHE carriers.
ISSN:0009-8981
1873-3492
DOI:10.1016/j.cccn.2004.09.004