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Jornal Brasileiro de Patologia e Medicina Laboratorial

versão impressa ISSN 1676-2444

Resumo

HERKENHOFF, Marcos Edgar; BACKES, Rodrigo Guilherme; GAULKE, Rodrigo  e  REMUALDO, Vanessa Rosália. Genotype frequency in MTHFR samples to C677T polimorphism in patients from the city of Curitiba-PR. J. Bras. Patol. Med. Lab. [online]. 2012, vol.48, n.6, pp.435-438. ISSN 1676-2444.  http://dx.doi.org/10.1590/S1676-24442012000600008.

Plasma homocysteine, associated with a mutation in the methyltetrahydrofolate reductase (MTHFR) gene, is regarded as a risk factor for coronary disease. The aim of this study was to determine the number of individuals with this mutation. The exams were sent to the laboratory Genolab, comprising the city of Curitiba-PR. We analyzed reports from a two-year period through real-time PCR method. Twenty-three individuals were homozygous for genotype C, 9 were homozygous for T and 35 were heterozygous. The detection of this mutation is vital to determine the suitable approach in the initial treatment of patients with correlated coronary diseases.

Palavras-chave : MTHFR; C677T polymorphism; Genotypes frequency; Real-time PCR.

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