KLINICZNE ZNACZENIE GENETYCZNIE UWARUNKOWANEGO POLIMORFIZMU OKSYDACJI W PATOGENEZIE OSTREJ BIAŁACZKI MIELOBLASTYCZNEJ.

The aim of this work was to evaluate whether there is an association between genetically determined individual difference in the polymorphism of isoenzyme CYP2D6 cytochrome P450 and the risk of developing acute myeloblastic leukaemia (AML). Material and methods: The investigations involved 98 subjects, including 34 patients suffering from acute myeloblastic laukaemia and 64 healthy individuals, who constituted a control group. Oxidation phenotype and genotype, and isoenzyme CYP2D6 gene amplification were determined in 30. 34 and 34 patients with AML and in 60, 64 and 47 healthy subjects respectively. The oxidation phenotype was determined in the urine by gas chromatographic method of Eiehelbaum and Gross. CYP2D6 gene polymorphism was determined by means of PCR-RFLP method (polymerase chain reaction amplification and restriction fragment length polymorphism), investigation of CYP2D6 isoenzyme gene amplification was performed by means of PCR method. Results: Poor oxidation phenotype has not been observed in AML patients, all the patients were extensive metabolizers of spartein, lnaddiction, the study found that the prevalence of extremely extensive oxidation phenotype in the group of AML patients was statistically significant higher then in control group. Moreover, the studies revealed a statistically significantly increased prevalence of a multiplied wild-type allele of the CYP2D6 gene in comparison to healthy individuals. Conclusion: These results may suggest that the extremely extensive oxidation phenotype and multiplied wild-type allele of the CYP2D6 gene may be associated with increased risk of the development of acute myeloblastic leukemia. [ABSTRACT FROM AUTHOR]