Nonsense mutation in exon 2 of the butyrylcholinesterase gene: a case of familial cholinesterasemia

A point mutation that causes a silent phenotype for human serum butyrylcholinesterase (BChE) was proved by DNA analyses of a 64-year-old Japanese female who visited the hospital because of a common cold. The propositus and her two siblings showed extremely low BChE activity, but other family members...

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Bibliographic Details
Published in:Clinica chimica acta 1997-05, Vol.261 (1), p.27-34
Main Authors: Hidaka, Kazuo, Iuchi, Iwao, Yamasaki, Toshiko, Ueda, Naoki, Hukano, Kouichi
Format: Article
Language:English
Subjects:
Butyrylcholinesterase - blood
Butyrylcholinesterase - genetics
Butyrylcholinesterase deficiency
Cholinesterases - blood
Cholinesterases - genetics
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Exons
Female
Gene sequence analysis
Genotype
Humans
Isoenzymes - blood
Isoenzymes - chemistry
Isoenzymes - genetics
Japan
Middle Aged
Pedigree
Point Mutation
Succinylcholine
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Summary:A point mutation that causes a silent phenotype for human serum butyrylcholinesterase (BChE) was proved by DNA analyses of a 64-year-old Japanese female who visited the hospital because of a common cold. The propositus and her two siblings showed extremely low BChE activity, but other family members (six individuals) manifested from intermediate to normal values of BChE activity. An immunological method revealed that the propositus and her two siblings showed absence of the BChE protein in serum. DNA sequence analysis of the propositus identified a point mutation at codon 400 (TGC → TGA), resulting in the production of a stop codon. This alteration exists upstream of the Cys 571 of the subunit, which forms a disulfide bridge with the Cys 571 of another partner subunit.
ISSN:0009-8981
1873-3492
DOI:10.1016/S0009-8981(96)06498-4