Genetic polymorphisms of CYP2D6, CYP1A1 and CYP2E1 in the South-Amerindian population of Chile.

摘要: Polymorphisms of cytochrome P450 genes show pronounced interethnic variation and have not been previously studied in the South-Amerindian population, which probably has an Asian origin. Therefore, a similar distribution allelic haplotype frequencies to populations might be expected South-Amerindians. We analysed for CYP2D6, CYP1A1 CYP2E1 population Chile (Mapuche, n = 84) by Southern blot or polymerase chain reaction-restriction fragment length polymorphism. Similar gene between Mapuches were observed. Frequencies two major functional CYP2D6*1 CYP2D6*2 alleles CYP2D6*5 null allele most world-wide. The CYP2D6*3 *9, absent Asians, found Mapuches. CYP2D6*4 group, uncommon populations, had low frequency (0.036). However, CYP2D6*10 (Ch1, Ch2 J), highly frequent Asians (0.33-0.50), very (0.018) our study population. In addition, presence common Chinese 44 kb XbaI CYP2D6 (0.19-0.31 Asians) was detected Interestingly, high rare m2 Val (0.821 0.91, respectively), Val/m2 significantly higher (0.748) than (0.24) (P < 0.01). this is highest reported date. Hardy-Weinberg equilibrium these polymorphisms. differences frequencies, as well absence CYP2D6. These interpreted consequence genetic drifts caused founder effect settlement South-Amerindians, selection dietary environmental factors.