A new detection method for the K variant of butyrylcholinesterase based on PCR primer introduced restriction analysis (PCR-PIRA).
The K variant of human butyrylcholinesterase is caused by a G/A transition in the butyrylcholinesterase gene, which neither creates nor destroys any restriction site. In an attempt to detect the K variant both simply and rapidly, we developed a two step method of "PCR primer introduced restriction analysis" (PCR-PIRA). The first step was used to introduce a new Fun4HI site into the normal allele for a screening test, while the second step was performed to create a new MaeIII site on the variant allele for a specific test. This method thus enabled us to distinguish clearly the K variant from the normal allele, and also showed that the frequency of the K variant allele is 0.164 in the Japanese population.
Shibuta
K
K
Department of Clinical Genetics, Kyusyu University, Oita, Japan.
Abe
M
M
Suzuki
T
T
D000483:Alleles; D044466:Asian People; D001483:Base Sequence; D002091:Butyrylcholinesterase / Q000032:analysis / Q000235:genetics*; D015342:DNA Probes; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*
D015342:DNA Probes; D002091:Butyrylcholinesterase