Ishiguro Akihiro, Kubota Takahiro, Sasaki Hiroshi, Iga Tatsuji
Department of Pharmacy, Faculty of Medicine, University of Tokyo Hospital, 7-3-1 Hongoh, Bunkyo, Tokyo, Postal code 113-8655, Japan.
Clin Chim Acta. 2004 Sep;347(1-2):217-21. doi: 10.1016/j.cccn.2004.04.020.
We found a genomic DNA (N=1) associated with an unidentified 11-kb EcoRI haplotype of CYP2D6 and with amplification of the CYP2D65 specific polymerase chain reaction (PCR) product without the 11.5-kb XbaI haplotype in a Japanese woman. We developed a long PCR assay to distinguish CYP2D65 and the novel mutant allele, and we evaluated the PCR method on 162 different genomic DNA samples.
Long PCR assays were performed to amplify a fragment specific for the novel mutant allele and to exclude coamplification of CYP2D6*5.
A 1692-bp PCR product was amplified from the DNA sample with the novel mutant allele, while the PCR product was not amplified from any of the 162 DNA samples.
The long PCR assay enabled the detection of the novel mutant allele associated with an 11-kb EcoRI haplotype. Further population studies are required to confirm the frequency of the novel mutant allele in various populations, as it may be contained in samples reported as CYP2D6*5.
我们在一名日本女性中发现了一种基因组DNA（N = 1），其与细胞色素P450 2D6（CYP2D6）的一个未鉴定的11 kb EcoRI单倍型相关，并且在没有11.5 kb XbaI单倍型的情况下CYP2D65特异性聚合酶链反应（PCR）产物出现扩增。我们开发了一种长片段PCR检测方法来区分CYP2D65和这种新的突变等位基因，并在162个不同的基因组DNA样本上评估了该PCR方法。
进行长片段PCR检测以扩增针对新突变等位基因的特异性片段，并排除CYP2D6*5的共扩增。
从携带新突变等位基因的DNA样本中扩增出了一个1692 bp的PCR产物，而在162个DNA样本中的任何一个中均未扩增出该PCR产物。
长片段PCR检测能够检测到与11 kb EcoRI单倍型相关的新突变等位基因。由于它可能存在于报告为CYP2D6*5的样本中，因此需要进一步的群体研究来确认该新突变等位基因在不同群体中的频率。
