title: Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells.
abstract: We noticed a Japanese male showed low serum butyrylcholinesterase (BCHE) activity on health examination. The phenotyping analysis revealed a reduced dibucaine number (DN) and an especially low fluoride number (FN), similar to an FS phenotype. A homozygous missense mutation, a T to A transversion at nucleotide 988, was identified in his BCHE gene. This mutation resulted in the replacement of leucine by isoleucine at codon 330 (L330I). DN and FN of recombinant BCHE(L330I) secreted by human fetal kidney cells were compared to recombinant wild-type(usual gene) BCHE and normal serum BCHE. These results showed this amino acid substitution of BCHE, Leu330 to Ile, really caused the abnormal DN and FN. We conclude that the BCHE L330I mutation is a fluoride-resistant gene, a Japanese type fluoride-resistant gene.
authors.affiliation: Department of Laboratory Medicine, Jikei University, Daisan Hospital, Komae City, Japan. kayosudo@jikei.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Sudo
authors.forename: M
authors.initials: M
authors.lastname: Maekawa
authors.forename: S
authors.initials: S
authors.lastname: Akizuki
authors.forename: T
authors.initials: T
authors.lastname: Magara
authors.forename: H
authors.initials: H
authors.lastname: Ogasawara
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D002091:Butyrylcholinesterase / Q000096:biosynthesis / Q000097:blood / Q000235:genetics*; D017931:DNA Primers; D003992:Dibucaine / Q000627:therapeutic use; D005091:Exons; D005333:Fetus; D005459:Fluorides / Q000494:pharmacology*; D006801:Humans; D007668:Kidney / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011994:Recombinant Proteins / Q000378:metabolism
chemical_list: D017931:DNA Primers; D011994:Recombinant Proteins; D002091:Butyrylcholinesterase; D003992:Dibucaine; D005459:Fluorides