Abstracts

Human Genome Diversity

N-acetyltransferase encoded by genes Nat1 and Nat2 are involved in biotransformation of aromatic amines that present in tobacco smoke, environment, drugs and food. It was observed, that polymorphic variants of the gene Nat2 (rapid (R/R, R/S) and slow (SS) acetylizers) define different detoxification speed and bioactivation of drugs and cancerogenes, in this connection the given polymorphic system can have significance in revealing of susceptibility to multifactorial diseases stipulated by environmental factors, in particular to oncologic ones. The high attention is payed to scale population studies of the polymorphic system Nat2 for a consequent estimation toxicological and ecological situation of environment. For the population of the Volga-Ural region such data are absent. In our study 72 women of mixed ethnic structure (Tatars (n=33), Russian (n=17), Bashkirs (n=14), Mari (n=6) and Chuvashes (N=2) were examined. The obtained genotype frequencies of rapid and slow acetylizers of Nat2 locus have constituted accordingly 76 and 24 %, that corresponds to data, available in the literature for China healthy women (Zhao B. et al., 2000), but differs from data for Russian populations (Aseev et al., 1999). The genotype frequencies distribution of Nat2 locus in Volga-Ural population are in accordance with Hardy-Weinberg equilibrium (p>0,05). Our sample can be used as a control for genotyping of Nat2 locus in patients with multifactorial diseases provoked by environmental factors.

Note. Abstracts are published in author's edition

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