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PCR-RFLP genotyping of the CYP2D6 3 and 4 allelic variants in breast cancer patients (CROSBI ID 468705)

Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija

Štefanović, Mario ; Ivanišević, Ana-Maria ; Topić, Elizabeta ; Petrinović, Rajka ; Orešić, Vlado ; Turić, Marijan PCR-RFLP genotyping of the CYP2D6 3 and 4 allelic variants in breast cancer patients // Labor Actuell Supplementum, Proceedings of the 5th International Congress of Clinical Chemistry and Laboratory Medicine, ALPS-ADRIA 98. / Schneiderka, Peter (ur.). Brno: Boehringer Mannheim, Czech, spol.s r.o., 1998. str. 32-32-x

Podaci o odgovornosti

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

engleski

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

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.

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

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Podaci o prilogu

32-32-x.

1998.

objavljeno

Podaci o matičnoj publikaciji

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.

Podaci o skupu

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

poster

24.09.1998-26.09.1998

Karlovy Vary, Češka Republika

Povezanost rada

Temeljne medicinske znanosti