Naslov
Detection of CYP2D6*3 and 2D6*4 Allelic Variants by PCR-Restriction Fragment Lenght Polymorphism

Autori
Topić, Elizabeta ; Štefanović, Mario ; Nikolić, Vjeran ; Zoričić, Zoran ; Ivanišević, Ana-Maria ; Žuntar, Irena

Izvornik
Clinical chemistry and laboratory medicine (1434-6621) 36 (1998), 8; 655-658

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
CYP2D6; Genetic polymorphism; Genotyping; PCR-RFLP

Sažetak
The mutant of CYP2D6*3 allele with A2637 deletion in exon 5 and mutant of CYP2D6*4 allele G1934&#61614 ; A, splice site defect, are among most common polymorphic alleles of CYP2D6 gene resulting in a decreased or no activity of CYP izoenzyme. In this study, a reliable polymerase chain reaction - restriction fragment lenth polymorphism method for identification of CYP2D6*3 and CYP2D6*4 alleles was used to investigate the genotype and phenotype prevalence in the groups of normal controls, and of cirrhosis and cancer patients. The results showed none of 36 controls genotyped for 2D6*3 and 2D6*4 allele to have 2D6*3 allele with frameshift mutation in exon 5, while 33 percent (n=12) were found to bear 2D6*4 allele with G to A mutation at intron 3 - exon 4 junction. In breast cancer patients (n=35) genotyped for 2D6*3 and 2D6*4 alleles, none with 2D6*3 allele was found either, but 60 percent (n=18) were found to bear 2D6*4 allele. In patients with head and neck planocellular cancer, there was only one subject with 2D6*3 allele and he was heterozygous. Among them, as many as ten (40 percent) patients were found to bear 2D6*4 allele. In the cirrhosis group, none of the patients was found to have 2D6*3 allele, while CYP2D6*4 allele was found in 23 percent (n=6) patients. The phenotype predicted according to the genotype was as follows: in the control group, 3 percent of individuals were identified as poor metabolizers, 70 percent as extensive metabolizers, and 27 percent as heterozygotes extensive metabolizers. In the group of breast cancer 7 percent of the patients were identified as poor metabolizer, 57 percent as extensive metabolizer and 36 percent as phenotype. In planocellular cancer and cirrhosis patients, the incidence of poor metabolizer was zero, and of heterozygotes extensive metabolizer 42 percent and 31 percent, respectively.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti, Farmacija

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