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Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency

Published online by Cambridge University Press:  01 November 1997

K. HIDAKA ,
I. IUCHI ,
M. TOMITA ,
Y. WATANABE ,
Y. MINATOGAWA ,
K. IWASAKI ,
K. GOTOH  and
C. SHIMIZU
K. HIDAKA
Affiliation:
Department of Biochemistry, Kawasaki Medical School, 577 Matsushima, Kurashiki 701-01, Japan
I. IUCHI
Affiliation:
Department of Medical Illustration and Designing, Kawasaki College of Allied Health Professions, 316 Matsushima, Kurashiki 701-01, Japan
M. TOMITA
Affiliation:
Department of Legal Medicine, Kawasaki Medical School, 577 Matsushima, Kurashiki 701-01, Japan
Y. WATANABE
Affiliation:
Department of Biochemistry, Kawasaki Medical School, 577 Matsushima, Kurashiki 701-01, Japan
Y. MINATOGAWA
Affiliation:
Department of Biochemistry, Kawasaki Medical School, 577 Matsushima, Kurashiki 701-01, Japan
K. IWASAKI
Affiliation:
Department of Surgery, Sakakibara Hospital, 2-1-10 Marunouchi, Okayama 700, Japan
K. GOTOH
Affiliation:
Department of Clinical Pathology, Sakakibara Hospital, 2-1-10 Marunouchi, Okayama 700, Japan
C. SHIMIZU
Affiliation:
Department of Clinical Pathology, Sakakibara Hospital, 2-1-10 Marunouchi, Okayama 700, Japan
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Abstract

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.

Type
Research Article
Information
Annals of Human Genetics , Volume 61 , Issue 6 , November 1997 , pp. 491 - 496
Copyright
© University College London 1997

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