Skip to main content
padlock icon - secure page this page is secure

Free Content Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency

Download Article:

You have access to the full text article on a website external to Ingenta Connect.

Please click here to view this article on Wiley Online Library.

You may be required to register and activate access on Wiley Online Library before you can obtain the full text. If you have any queries please visit Wiley Online Library

A patient (64-year-old, male) with familial cholinesterasemia caused by BChE deficiency was studied. DNA sequence analysis of all exons identified a point mutation, an A→G transition at codon 128, resulting in a Tyr→Cys substitution. The propositus showed extremely low BChE activity, but his other family members (three individuals) showed from intermediate to normal BChE activity. An immunological method revealed the absence of BChE protein in serum of the propositus. Both PCR primer introduced restriction analysis (PCR-PIRA) and sequence analysis revealed all three family members to be heterozygotes for this mutation.
No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Document Type: Research Article

Affiliations: 1: Department of Biochemistry, Kawasaki Medical School, 577 Matsushima, Kurashiki 701-01, Japan 2: Department of Medical Illustration and Designing, Kawasaki College of Allied Health Professions, 316 Matsushima, Kurashiki 701-01, Japan 3: Department of Legal Medicine, Kawasaki Medical School, 577 Matsushima, Kurashiki 701-01, Japan 4: Department of Surgery, Sakakibara Hospital, 2-1-10 Marunouchi, Okayama 700, Japan 5: Department of Clinical Pathology, Sakakibara Hospital, 2-1-10 Marunouchi, Okayama 700, Japan

Publication date: November 1, 1997

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more