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Free Content Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency

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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.
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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

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