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Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53 Genet. Mol. Biol.
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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Development of a qPCR Method for the Identification and Quantification of Two Closely Related Tuna Species, Bigeye Tuna ( Thunnus obesus ) and Yellowfin Tuna ( Thunnus albacares ), in Canned Tuna ArchiMer
Bojolly, Daline; Doyen, Perine; Le Fur, Bruno; Christaki, Urania; Verrez-bagnis, Veronique; Grard, Thierry.
Bigeye tuna (Thunnus obesus) and yellowfin tuna (Thunnus albacares) are among the most widely used tuna species for canning purposes. Not only substitution but also mixing of tuna species is prohibited by the European regulation for canned tuna products. However, as juveniles of bigeye and yellowfin tunas are very difficult to distinguish, unintentional substitutions may occur during the canning process. In this study, two mitochondrial markers from NADH dehydrogenase subunit 2 and cytochrome c oxidase subunit II genes were used to identify bigeye tuna and yellowfin tuna, respectively, utilizing TaqMan qPCR methodology. Two different qPCR-based methods were developed to quantify the percentage of flesh of each species used for can processing. The first one...
Tipo: Text Palavras-chave: Tuna; Authentication; Quantification; Canned products; TaqMan; QPCR; Species identification; Bigeye tuna (Thunnus obesus); Yellowfin tuna (Thunnus albacares).
Ano: 2017 URL: https://archimer.ifremer.fr/doc/00371/48217/48403.pdf
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