Resumen

ISAZA MEJIA, Carlos A et al. Caracterization of dopamine β-hydroxylase gene in the Colombian Mestizo Population. Investig. andina [online]. 2013, vol.15, n.27, pp.760-769. ISSN 0124-8146.

Introduction: dopamine β- hidroxylase catalyzes the conversion of dopamine to norepinephrine and it is a promising target for pharmacological inventions. DβH gene polymorphisms are responsible for individual differences in dopaminergic and adrenergic tone of the central and autonomic nervous systems. Since defective enzyme mutations and their frequencies vary among ethnic groups, it is justify the studies leading to the genotypic and phenotypic characterization of the enzyme in Colombian mestizos. Methods: we determined the frequencies of the alleles -2073C>T, -970C>T, 444A>G and 1603C>T DβH gene in 143 healthy adults, mestizo features, both sexes and nonconsanguineous. PCR-real time and minisequencing (SnaPshot) tecnhiques were used for the genotyping. Results: the frequencies of polymorphic genotypes were: -2073C>T (CC 61,5%, CT 32,9%, TT 5,6%), -970C>T (CC 49,6%, CT 43,4, TT 7%) and 444A>G (AA 42%, AG 41,2%, GG 16,8%).The three alleles are in linkage disequilibrium (D'=1) but they do not replace each other (r²<0,8). 15 people (10,5%) had the homozygous triple native haplotype (CC/CC/AA). Conclusion: our allelic frequencies are similar to those reported in other Latin American mestizo groups.

Palabras clave : Dopamine β-Hydroxylase; Pharmacogenetics; Genotype; Genetic polymorphism.

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