Analysis of mutation of the plasma cholinesterase gene in a man who had died following a traffic accident

Akiko Tsuji, Hiromasa Inoue, Keiko Kudo, Noriaki Ikeda

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)

Abstract

We analyzed mutation of the butyrylcholinesterase (BCHE) gene in a 69-year-old man on whom a forensic autopsy had been performed after he had died following a traffic accident. Extremely low plasma cholinesterase activity had been pointed out by the emergency doctor at the hospital prior to his death and based on this, organophosphorus poisoning had been suspected. However, no pesticides, which could have reduced the plasma cholinesterase activity, were detected by toxicological analysis using GC/MS. Subsequently, one base insertion was found in exon 2. The frame shift mutation had occurred because a homozygous extra T had been inserted between nucleotides 1343 and 1344, resulting in the appearance of a stop codon in codon 454 (AGA454TAA, Arg454stop). This heterozygous frame shift mutation at this point was identified in the man's son. It is likely that there may be many such latent patients with abnormal plasma cholinesterase activity, and accordingly we should always bear this fact in mind and should carry out molecular genetic testing for an accurate diagnosis of this deficiency.

Original languageEnglish
Pages (from-to)223-225
Number of pages3
JournalForensic Science International
Volume159
Issue number2-3
DOIs
Publication statusPublished - Jun 2 2006

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

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