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.