PMID: 8601326Apr 1, 1996Paper

Three different point mutations in the butyrylcholinesterase gene of three Japanese subjects with a silent phenotype: possible Japanese type alleles

Clinical Biochemistry
K SudoT Magara

Abstract

To investigate genetic mutations in three Japanese subjects homozygous for silent butyrylcholinesterase mutations. One of them was compound heterozygous for two mutations; GGA(Gly) to CGA(Arg) at codon 365 (G365R) and CAA(Gln) to TAA(Ter) at codon 119 (Q119X). The other two subjects were homozygous for different missense mutations: CGT(Arg) to TGT(Cys) at codon 515 (R515C) and G365R, respectively. Simple identification methods for all of the mutations were developed and applied for family analysis and to control individuals. Two mutations, G365R and R515C, have been reported in the Japanese population, while the nonsense mutation Q119X was discovered in the present study. Genetic heterogeneity between human populations with regard to the butyrylcholinesterase gene was suggested. Among the three mutations found in this investigation, one was novel, and none of these mutations have been reported outside Japan.

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Citations

Dec 4, 1998·Annales Françaises D'anesthèsie Et De Rèanimation·C LejusR Souron
Oct 23, 2004·Clinical Chemistry and Laboratory Medicine : CCLM·Setsuko AkizukiKayoko Sudo
Mar 23, 2005·Molecular Genetics and Metabolism·Ricardo L R SouzaEleidi A Chautard-Freire-Maia
Jun 28, 2011·Arhiv za higijenu rada i toksikologiju·Anita BosakZrinka Kovarik
Mar 2, 2012·Clinical Chemistry·JoDell E WhittingtonRong Mao
Jan 25, 2005·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Xavier CousinArnaud Chatonnet
Jan 14, 2011·American Journal of Clinical Pathology·M Laura ParnasDavid G Grenache

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