Naslov
PCR-RFLP genotyping of the CYP2D6 3 and 4 allelic variants in breast cancer patients

Autori
Štefanović, Mario ; Ivanišević, Ana-Maria ; Topić, Elizabeta ; Petrinović, Rajka ; Orešić, Vlado ; Turić, Marijan

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Labor Actuell Supplementum, Proceedings of the 5th International Congress of Clinical Chemistry and Laboratory Medicine, ALPS-ADRIA 98. / Schneiderka, Peter - Brno : Boehringer Mannheim, Czech, spol.s r.o., 1998, 32-32

Skup
5th International Congress of Clinical Chemistry and Laboratory Medicine, ALPS-ADRIA 98.

Mjesto i datum
Karlovy Vary, Češka Republika, 24.09.1998. - 26.09.1998

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
PCR-RFLP; Genotyping; CYP2D6 3 and 4; Breast cancer patients

Sažetak
CYP2D6, cytochrome P-450 isoform has an important role in adverse therapeutic effects or prevalence of cancer and metabolizes more than 25 percent of most common drugs. More than 17 different allelic variants are identified to date. The mutant CYP2D6 3* allele with A deletion in exon V and mutant CYP2D6 4* allele with G1934A, splice site defect, are the most common. Both mutations result in no activity of CYP2D6 isoenzyme and contribute to poor metabolizer phenotype. Very little is known about the relationship between CYP2D6 mutants (poor metabolizers) and their role in regulating the capacity of individual breast cells to metabolize hormones and environmental carcinogens as well as thesusceptibility to breast cancer. The aim of the study was to investigate the frequencies of CYP2D6 3* and 4* mutants in patients with breast cancer. Genotyping of the CYP2D6 3* and 4* alleles was performed on whole blood DNA of patient (n=44) and control group (healthy volunteers, n=33) by PCR-RFLP method. PCR products obtained upon exon IV (4* allele) and exon V (3* allele) amplification, the (355 bp and 270 bp, respectively) were cleaved by Mva I and Msp I restriction endonucleases, and genotype of each sample was determined by electrophoresis on 3 percent agarose gel. Study results indicated that out of 33 controls studied for 4* allele, 23 (70 percent) were wild type and 10 (30 percent) were detected to bear 4* allele: 9 (27 percent) of them were found to be heterozygous and 1 (3percent) homozygous. Among 33 controls there was no 3* allele. Among 44 patients, no one had 3* allele, 25 (57 percent) were genotyped as wild type and there were 19 (43 percent) patients with 4 allele: 16 (36 percent) of them heterozygous, 3 (7 percent) homozygous. Statistical analysis (Chi square test) did not show significant difference between CYP2D6 3* and 4* mutant alleles in control and patient group (P=0.472) These preliminary results showed that patient group should be expanded and further study is needed to confirm our findings.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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