title: Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.
abstract: BACKGROUND
  Butyrylcholinesterase (BCHE) deficiency is characterized by prolonged apnea after the use of certain muscle relaxants with the genetic defect lying in the BCHE gene.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China.
authors.forename: Angel
authors.initials: A
authors.lastname: On-Kei Chan
authors.forename: Ching-Wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Sui-Fan
authors.initials: SF
authors.lastname: Tong
authors.forename: Cheng
authors.initials: C
authors.lastname: Man Tung
authors.forename: Kwok
authors.initials: K
authors.lastname: Yung
authors.forename: Yan-Wo
authors.initials: YW
authors.lastname: Chan
authors.forename: Kam-Ming
authors.initials: KM
authors.lastname: Au
authors.forename: Yuet-Ping
authors.initials: YP
authors.lastname: Yuen
authors.forename: Chi-Tim
authors.initials: CT
authors.lastname: Hung
authors.forename: Kin-Pong
authors.initials: KP
authors.lastname: Ng
authors.forename: Chi-Chung
authors.initials: CC
authors.lastname: Shek
mesh_terms: D002091:Butyrylcholinesterase / Q000172:deficiency* / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005820:Genetic Testing; D006579:Heterozygote; D006723:Hong Kong; D006801:Humans; D009154:Mutation / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D009626:Terminology as Topic
chemical_list: D017931:DNA Primers; D004247:DNA; D002091:Butyrylcholinesterase