Resumo

OSORIO, José Henry. Evidence of 511C>T polymorphism in the short chain acyl-CoA dehydrogenase gene in Colombia. Acta bioquím. clín. latinoam. [online]. 2014, vol.48, n.3, pp.363-366. ISSN 0325-2957.

Short-chain acyl-CoA dehydrogenase (SCAD) catalyzes the initial reaction in short-chain fatty acid ß-oxidation. Hereditary SCAD deficiency has been reported and only few cases of this disorder have been described. The present study was conducted to determine the possible presence of the 511C>T variation in the short-chain acyl-CoA dehydrogenase gene in Caldas (Colombia), as the 625G>A and 511C>T variations are present in 14% of some studied populations causing its deficiency on some occasions. The present study is descriptive, blood samples of three hundred adult volunteers were tested for 511C>T polymorphism, analysing the polymerase chain reaction amplified cDNA, using a single-stranded conformation polymorphism assay. The results were confirmed by direct bidirectional cycle sequencing using DNA from the positive patients. The polymorphism was identified and confirmed in three healthy persons. This is evidence of the presence of 511C>T polymorphism in the short chain acyl-coA dehydrogenase gene in Colombia, which means that some people in these populations can be at risk of suffering SCAD deficiency.

Palavras-chave : Short-chain acyl-coA dehydrogenase; Polymorphism; ß-oxidation.

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