Identification of missense mutation (G365R) of the butyrylcholinesterase (BCHE) gene in a Japanese patient with familial cholinesterasemia.
A point mutation which caused a silent phenotype of human serum butyrylcholinesterase (BChE) was identified in the genomic DNA of a 57-year-old Japanese woman who visited our hospital because of pneumonia. The propositus exhibited an unusually low level of BChE activity, whereas her son and daughter had an intermediate level. Immunologically, there was an absence of BChE protein in the propositus's serum. DNA sequence analysis of the propositus demonstrated a point mutation at codon 365 (GGA-CGA), resulting in a Gly-Arg substitution. A family study showed her son and daughter to have the same mutation.
Sakamoto
N
N
Department of Internal Medicine, Harima Hospital of Ishikawajima-Harima Heavy Industries, Health Insurance Society, 3-5-15 Asahi, Aioi, Hyogo, 678-0031, Japan.
Maeda
T
T
Hidaka
K
K
Teranishi
T
T
Toyoda
M
M
Onishi
Y
Y
Kuroda
S
S
Sakaguchi
K
K
Fujisawa
T
T
Maeda
M
M
Watanabe
Y
Y
Iuchi
I
I
D002091:Butyrylcholinesterase / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000097:blood; D007564:Japan; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D017422:Sequence Analysis, DNA
D007527:Isoenzymes; D002091:Butyrylcholinesterase; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases