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Cell Journal، جلد ۱۷، شماره ۱، صفحات ۸۳-۸۸
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عنوان انگلیسی Novel +90G>A Intronic Polymorphism of CYP2D6
چکیده انگلیسی مقاله Objective
CYP2D6, 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 Methods
A 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.
Results
We 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.
Conclusion
In the current study, we identified novel polymorphism in intron 4. This single nucleotide polymorphism (SNP) is known as +90G>A in the fourth intron.
کلیدواژه‌های انگلیسی مقاله Polymorphism, Novel Variant
نویسندگان مقاله Monir Modaresi-nejad |
Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran

Marzieh Shiva |
Department of Endocorinology and Female Infertility at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

Parvaneh Afsharian |
Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

نشانی اینترنتی https://www.celljournal.org/article_250265_bc7f1451d46b09f9310981039a9ff878.pdf
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