Clark FY, Ruenes DC, García BEF, Collazo MT, Roblejo BH, Morales PE, Clark FI, Robaina JZ

Language: Spanish
References: 0
Page: 30-35
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ABSTRACT

Foundation: Wilson’s disease is characterized by the accumulation of copper, mainly in the liver and the brain. It is transmitted with an autosomal recessive inheritance pattern. The mutations of atp7b gene are the cause which produces it, which is found in chromosome 13. In literature it has been informed more than 139 polymorphisms in atp7b gene, both in exons and in introns.
Objective: To identify T991T polymorphism in Cuban patients with clinical diagnosis of Wilson’s disease.
Methods: A descriptive study was done, in the Center of Medical Genetic, during the period of 2011-2013, which included 35 patients with clinical diagnosis of Wilson’s disease. For the amplification of fragment of interest, it was used the Polymerase Chain Reaction technique and to identify conformational changes, the Simple Chain Conformational Polymorphism technique, in exon 13 of the atp7bgene. T991T polymorphism was identified by the sequence of the fragment analyzed and the L708P mutation by enzymatic digestion.
Results: T991T polymorphism allele frequency in the 35 Cuban studied patients was of 10 %. Hepatic manifestations were the most frequent (57.1 %). In the 71.4 % of the patients who presented T991T polymorphism it was identified K832R polymorphism as well. In one patient it was identified mutation L708P.
Conclusion: the identification of T991T polymorphism will allow in the immediate future the molecular diagnosis by indirect methods and its correlations with clinical manifestations present in patients with Wilson’s disease.