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| Fitarelli-Kiehl,Mariana; Macedo,Gabriel S.; Schlatter,Rosane Paixão; Koehler-Santos,Patricia; Matte,Ursula da Silveira; Ashton-Prolla,Patricia; Giacomazzi,Juliana. |
| Abstract Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline mutation is exceedingly high in the general population and in cancer-affected patients, probably as result of a founder effect. Several genotyping methods are used for the molecular diagnosis of LFS/LFL, however Sanger sequencing is still considered the gold standard. We compared performance, cost and turnaround time of Sanger sequencing, PCR-RFLP, TaqMan-PCR and HRM in the p.R337H genotyping. The performance was determined by analysis of 95 genomic DNA samples and results were 100% concordant for all methods. Sequencing was the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: TP53-p.R337H; RFLP; TaqMan; HRM; Sanger Sequencing. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200203 |
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