CYP1A1 and CYP2E1 polymorphism frequencies in a large Brazilian population
作者： Renata dos Santos Coura , Christiane de Fátima Silva Marques , Rosalina J. Koifman , Sergio Koifman , Pedro Hernan Cabello
DOI: 10.1590/S1415-47572007000100001
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摘要: Abstract The enzymes encoded by the polymorphic genes CYP1A1and CYP2E1play an important role in activation andinactivationofxenobiotics.Theseenzymeshavebeenassociatedwithxenobiotic-induceddiseases,suchascancer,therapeutic failure and adverse effects of drugs. aim present study was to determine allelic andgenotypic frequencies these polymorphisms a large, ethnically mixed Brazilian population sample from Rio deJaneiro.PolymorphismsCYP1A1andCYP2E1weredeterminedin870unrelatedindividualsbyPCR-RFLPanalysisinperipheralbloodDNA.Theobservedallelicfrequencieswere0.90forCYP1A1*1Aand0.95forCYP2E1*1A,inthetotal sample. frequency CYP1A1*2Cin “pardos” (0.13) whites (0.11) higher than inCaucasians (0.05), which may be result Amerindian genetic component, that presents highest frequencyof this allele observed up now. genotype distributions for both were Hardy-Weinberg equi-librium statistically different between males females, among ethnic groups.
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