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2014, Number 6

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Revista Habanera de Ciencias Médicas 2014; 13 (6)

Frequency of allelic variant CYP2D6*6 in a sample of the cuban population

Roblejo BH, Rosado Ruiz-Apodaca I, Esperón ÁAA, Collazo MT, Fuentes SLE

Language: Spanish
References: 18
Page: 830-836
PDF size: 113.37 Kb.


ABSTRACT

Introduction: the CYP2D6 gene codifies the debrisoquine 4-hydroxylase protein, an enzyme involved in the phase I of the metabolism of many drugs widely used in daily clinical practicing and belongs to the superfamily of cytochromes. There are allelic variants that don´t involve the action of this enzyme, or at least not in a significative way.
Objective: the evaluation of four alleles: CYP2D6 * 3, * 4, * 5 and * 6 predicts among the 93 to 97.5% of the possible phenotypes poor metabolizers, that involves the accumulation of toxic derivatives and therefore it´s increased the risk of adverse reactions.
Material and Methods: 183 samples from the DNA bank of the National Center of Medical Genetics were analysed, including unrelated individuals across the country, in order to determine gene and genotypic frequency associated with the allelic variant CYP2D6 * 6 and compare it with the reported in other populations.
Results: the allelic frequency was 0.008, a result that didn´t show a significant difference with most of the comparing population.
Conclusions: the distribution of the observed genotype frequencies was consistent with those expected according to the Hardy-Weinberg equilibrium law.


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