Population diversity of the COMT gene in Resistencia, Chaco

GONZÁLEZ, REBECA; CATANESI, CECILIA INÉS

Chascomús, Bs. As.

Jornada; XVI Jornadas Anuales de la Sociedad Argentina de Biología; 2014

Sociedad Argentina de Biología

The catechol-O-methyl transferase (COMT) metabolizes the catecholamines, controlling dopaminergic and adrenergic neurotransmission. The gene coding this enzyme presents several polymorphisms which participate in diverse metabolic phenotypes. The aim of this work was to describe the sequence variation of COMT gene in the population of Chaco province, Argentine. We analyzed 4 SNPs in DNA samples from 75 individuals from the capital city, Resistencia, through PCR-RFLP for rs740603, rs6269, rs4680, and allele-specific PCR for rs4818. The average nucleotide diversity was 44.26% +/-30.7, with heterozygosity values between 44.61% and 61.73%. The markers fit Hardy-Weinberg equilibrium (exact test of sample differentiation, on genotype frequencies), and pairwise linkage disequilibrium was only found between rs6269 and rs4818 (chi square test). We compared these results with previous data from Buenos Aires province, and no significant differences were found (exact test, p=0.26021, 4 d.f.). Although heterozygosity values were non significantly different, they were higher among Chaco population than among Buenos Aires people, suggesting a possible contribution of Native variation to the genetic composition of Resistencia population. This is in accordance with previous data on neutral markers analyzed in nuclear genome.