title: Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.
abstract: We have identified 12 kinds of genetic mutations of butyrylcholine esterase (BCHE) from phenotypic abnormalities, showing that BCHE activities were deficient or diminished in sera. These genetic mutations, detected by PCR-single-strand conformation polymorphism analysis and direct sequencing, consisted of one deletion (BCHE*FS4), nine missense (BCHE*24 M, *1005, *250P, *267R, *330I, *365R, *418S, *515C, *539T), and two nonsense mutations (BCHE*119STOP, *465STOP). All of the individuals deficient in serum BCHE activity were homozygous for silent genes (6 of 6). Fifty-eight percent of the individuals (31 of 53) with slightly reduced serum BCHE activity were heterozygous for silent genes. They also showed a higher frequency (47% as allele frequency) of the K-variant than the general population (17.5%). Finally, we confirmed low serum BCHE activity in 10 of 23 individuals heterozygous for silent genes.
authors.affiliation: Clinical Laboratory, National Cancer Center Hospital, Tokyo, Japan. mmaekawa@gan2.ncc.go.jp
authors.forename: M
authors.initials: M
authors.lastname: Maekawa
authors.forename: K
authors.initials: K
authors.lastname: Sudo
authors.forename: D C
authors.initials: DC
authors.lastname: Dey
authors.forename: J
authors.initials: J
authors.lastname: Ishikawa
authors.forename: M
authors.initials: M
authors.lastname: Izumi
authors.forename: K
authors.initials: K
authors.lastname: Kotani
authors.forename: T
authors.initials: T
authors.lastname: Kanno
mesh_terms: D002091:Butyrylcholinesterase / Q000097:blood / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007206:Individuality; D007564:Japan; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012016:Reference Values; D012709:Serum Albumin / Q000378:metabolism
chemical_list: D012709:Serum Albumin; D002091:Butyrylcholinesterase