Unique Genotyping Protocol of CYP2D6 Allele Frequency Using Real Time Quantitative PCR from Japanese Healthy Women
| Autor: | Madoka Kisoi, Atsushi Ichikawa, Yui Sakaguchi, Kenji Kinoshita, Miwako Yamamura, Miho Imai, Shigenori Murata |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
CYP2D6 Genotype Pharmaceutical Science Single-nucleotide polymorphism Biology Real-Time Polymerase Chain Reaction Polymorphism Single Nucleotide digestive system 03 medical and health sciences 0302 clinical medicine Asian People Gene Frequency Humans SNP Copy-number variation Allele skin and connective tissue diseases Genotyping Allele frequency Pharmacology Genetics General Medicine 030104 developmental biology Cytochrome P-450 CYP2D6 030220 oncology & carcinogenesis Female |
| Zdroj: | Biological and Pharmaceutical Bulletin. 43:904-907 |
| ISSN: | 1347-5215 0918-6158 |
| DOI: | 10.1248/bpb.b19-00512 |
| Popis: | CYP2D6 is an important drug-metabolizing enzyme involved in the metabolism of 20-25% of commonly prescribed drugs. Genetic polymorphism of CYP has clinically significant modifications in patients' drug-metabolizing capacities. Since gene copy number variation (CNV) and single nucleotide polymorphism (SNP) frequently occur in the CYP2D6 gene, which the activity of CYP2D6 particularly depend on the genetic factors. This study aimed to investigate the frequencies of CYP2D6 genotypes in a Japanese female subject of 216 healthy volunteers. The volunteers were genotyped for CNV Exon 9 and four CYP2D6 genetic variants (*2, *5, *10, *14, *41) performed by TaqMan® genotyping assays. The CNV allele frequencies were 82.9% for two copies, 11.6% for one copy, 4.6% for three copies and 0.9% for zero copy, respectively. The frequencies of CYP2D6*1, *2, *5, *10, *14, and *41 were 38.7, 16.7, 6.3, 34.7, 0.2, and 1.2%, respectively. CYP2D6*5 and *14 were the major defective alleles. However, this genotyping is labor intensive, time consuming, and costly. We report an optimized novel protocol for the determination of CNV and SNP in CYP2D6 gene by real-time quantitative PCR. This can lower the cost and accurately determine CNV and SNP in the CYP2D6 gene with a higher output and enabling reliable estimates of disease prediction in large epidemiological samples. |
| Databáze: | OpenAIRE |
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