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Online edition:ISSN 2758-089X

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Missense mutation (BCHE P100S) of the butyrylcholinesterase gene in two patients with cholinesterasemia

A missense mutation which resulted in a, silent phenotype of human plasma butyrylcholinesterase (BChE) was identified in the DNA of two Japanese patients, a 56-year-old male and a 59-year-old female. They showed extremely low butyrylcholinesterase (BChE) activity in their sera and seemed to be homozygous for a silent type of the BChE gene. Production of the BChE protein could not be found in their plasma by an immunological method. DNA sequence analysis identified a point mutation at codon 100 (CCA → TCA), resulting in a Pro → Ser substitution. An artificial restriction site was introduced into a PCR product with a specific mismatched primer by the use of the PCR-primer introduced restriction analysis (PCR-PIRA). This PCR-PIRA method enabled us to clearly distinguish this mutation from the normal allele.

著者名
Hidaka K, et al
24
2
61-67
DOI
10.11482/KMJ24(2)61-67.1998.pdf

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