Shibuta K, Abe M, Suzuki T
Department of Clinical Genetics, Kyusyu University, Oita, Japan.
J Med Genet. 1994 Jul;31(7):576-9. doi: 10.1136/jmg.31.7.576.
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.
人丁酰胆碱酯酶的K变体是由丁酰胆碱酯酶基因中的G/A转换引起的，该转换既不产生也不破坏任何限制性酶切位点。为了简单快速地检测K变体，我们开发了一种两步法的“PCR引物引入限制性分析”（PCR-PIRA）。第一步用于在正常等位基因中引入一个新的Fun4HI位点进行筛查测试，而第二步用于在变体等位基因上创建一个新的MaeIII位点进行特异性测试。因此，该方法使我们能够清楚地区分K变体和正常等位基因，并且还表明在日本人群中K变体等位基因的频率为0.164。
