Resumo

DOMINGUEZ, MV; BASTOS, EP; SILVA, SD  e  ROSSI, BM. Molecular research methods in the detection of germinal mutations in hereditary colorectal cancer. Rev. gastroenterol. Perú [online]. 2009, vol.29, n.3, pp.247-253. ISSN 1022-5129.

Colorectal cancer (CRC) is one of the main causes of death in South American countries. The hereditary forms of CRC are, familial adenomatous (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome (LS), which is the most common form. The detection of mutations in the DNA repair genes (MMR) and in the APC genes enables the development of prevention strategies. Some of these methods for molecular diagnosis are applied in research and the detection of mutations of these genes, such as the partial thromboplastin time test (PTT), the single strand conformational polymorphism test (SSCP), the Denaturing High Performance Liquid Chromatography test (DHPLC) and the Polymerase Chain Reaction (PCR) in real time (qPCR).

Palavras-chave : Germinal mutations; LS; FAP; PTT; SSCP; DHPLC; qPCR.

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