Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.
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.
On-Kei Chan
Angel
A
Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China.
Lam
Ching-Wan
CW
Tong
Sui-Fan
SF
Man Tung
Cheng
C
Yung
Kwok
K
Chan
Yan-Wo
YW
Au
Kam-Ming
KM
Yuen
Yuet-Ping
YP
Hung
Chi-Tim
CT
Ng
Kin-Pong
KP
Shek
Chi-Chung
CC
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
D017931:DNA Primers; D004247:DNA; D002091:Butyrylcholinesterase