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

Clinica Chimica Acta; International Journal of Clinical Chemistry
K HidakaK Hukano

Abstract

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 Cys571 of the subunit, which forms a disulfide bridge with the Cys571 of another partner subunit.

References

Jan 1, 1975·Progress in Histochemistry and Cytochemistry·U Drews
Dec 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·K MurataniK Higashino
Jun 1, 1991·Scandinavian Journal of Clinical and Laboratory Investigation·J HangaardB Nørgaard-Pedersen
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Feb 28, 1995·Clinica Chimica Acta; International Journal of Clinical Chemistry·M MaekawaK Etoh

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