Resumo

ORJUELA QUINTERO, Diana Carolina et al. Mutations in the GATA4 gen in patients with non-syndromic congenital heart disease. Invest. clín [online]. 2014, vol.55, n.3, pp.207-216. ISSN 0535-5133.

Congenital heart diseases are defined as any heart or large vessel structural abnormality resulting from abnormal embryonic development, usually described between the 3^rd and 10^th week of gestation. They comprise the second cause of death in children under a year of age in Colombia, with a prevalence of 7.5-9.5 per 1,000 births, including live and still births. We analyzed 33 heart tissue samples collected at the Clínica Shaio (Bogotá, Colombia). Blood and tissue samples were collected from patients with non-syndromic congenital heart disease. Tissue was isolated near the defect. Electropherograms obtained from samples were analyzed using bioinformatic tools: ChromasPro and ClustalW. The whole gen covering its six exons was analyzed in forward and reverse orientation. We identified 17 mutations, including five non-synonymous sequence changes, one synonymous variant and one variation in the 5’ UTR, three intronic changes and seven deletions. We found no evidence of gene GATA4 somatic sequence variants in any of the samples analyzed.

Palavras-chave : GATA4; mutation; bioinformatic analysis; sequence.

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