TY - JOUR ID - 250265 TI - Novel +90G>A Intronic Polymorphism of CYP2D6 JO - Cell Journal (Yakhteh) JA - CELLJ LA - en SN - 2228-5806 AU - Modaresi-nejad, Monir AU - Shiva, Marzieh AU - Afsharian, Parvaneh AD - Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran AD - Department of Endocorinology and Female Infertility at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran AD - Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran Y1 - 2015 PY - 2015 VL - 17 IS - 1 SP - 83 EP - 88 KW - Polymorphism KW - Novel Variant DO - 10.22074/cellj.2015.514 N2 - ObjectiveCYP2D6, an enzyme, metabolizes a large number of commonly prescribed drugs. Variations in CYP2D6 gene encoding this enzyme have been associated with individual differences in drug metabolism rates. The purpose of our study was to identify some allelic variants of CYP2D6 gene and to detect defective CYP2D6 alleles, as part of a pharmacogenetic screening program. Materials and MethodsA prospective study was done on 120 participants referred to Royan Institute in 2013. Allele and genotype frequencies for polymorphism of CYP2D6 gene in exons 1 and 4 were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and sequencing on PCR products, respectively. ResultsWe identified a novel variant of the gene encoding cytochrome P450 2D6 (CYP2D6) at position +90 of intron 4 by sequencing method. This novel polymorphism of CYP2D6 has been deposited in GeneBank® under the accession number KF225465 in Jun 2013. ConclusionIn the current study, we identified novel polymorphism in intron 4. This single nucleotide polymorphism (SNP) is known as +90G>A in the fourth intron. UR - https://www.celljournal.org/article_250265.html L1 - https://www.celljournal.org/article_250265_bc7f1451d46b09f9310981039a9ff878.pdf ER -