Pregled bibliografske jedinice broj: 6224
PCR genotyping of CYP2D6 gene
PCR genotyping of CYP2D6 gene // First European-American Intensive Course in PCR Based Clinical and Forensic Testing : Laboratory Manual / Burgi, Dean S. (ur.).
Split: Laboratorij za kliničku i molekularnu genetiku, Klinička bolnica, 1997. str. 156-158 (pozvano predavanje, međunarodna recenzija, sažetak, znanstveni)
CROSBI ID: 6224 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
PCR genotyping of CYP2D6 gene
Autori
Topić, Elizabeta ; Žuntar, Irena ; Štefanović, Mario
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
First European-American Intensive Course in PCR Based Clinical and Forensic Testing : Laboratory Manual
/ Burgi, Dean S. - Split : Laboratorij za kliničku i molekularnu genetiku, Klinička bolnica, 1997, 156-158
Skup
First European-American Intensive Course in PCR Based Clinical and Forensic Testing
Mjesto i datum
Split, Hrvatska, 23.09.1997. - 03.10.1997
Vrsta sudjelovanja
Pozvano predavanje
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
cytochrome P450; isoenzymes; CYP2D6; drug metabolism; EM; PM; UEM genotyping; phenotyping; PCR-RFLP
Sažetak
Cytochrome P450 (CYP) family presents the most important oxidative enzyme system involved in the metabolism of numerous widely used drugs including antiarrhytmics, antidepressants, beta-blockers, and neuroleptics. More than thirty CYP isoenzymes have been characterized in humans, each with distinct catalytic specificity and unique regulation. The genetic polymorphism has been linked to three classes of phenotypes relating to drug metabolism; extensive (EM), poor (PM) and ultraextensive (UEM) metabolizers resulting in normal, high and low blood levels of the therapeutics.
PCR method presents screening method for genetic mutations associated with altered metabolism of drugs by amplification of specific region of the gene of interest followed by digestion of the amplified DNA product with restriction endonucleases and comparison the size of digestion products generated from a DNA substrate amplified from control subject DNA vs. study subject DNAs. Differences in the size of DNA fragments generated as a result of endonuclease digestion, commonly referred as a restriction fragment length polymorphism (RFLP), can be easily evaluated by agarose gel electrophoresis with ethidium bromide staining and UV transillumination. The protocol for the two mutations of the most common allele (CYP2D6A-2,7% and CYP2D6B - 28,6%) of CYP2D6 gene has been described.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti
