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| Yunis,Luz Karime; Linares,Adriana; Cabrera,Edgar; Yunis,Juan J.. |
| Abstract Hemophilia A (HA) is an X-linked recessive disorder and the second most common coagulation disorder with an incidence of 1 in 5,000 live born males. Worldwide, there are 178,500 affected individuals, 60% with the severe form of the disease. Intron 22 and 1 inversions (Inv22 and Inv1) are the most frequent molecular alterations found in severe HA patients with a frequency of 45-50% and 0.5-5%, respectively. We have implemented a systematic cost-effective strategy for the identification of the molecular alteration in HA patients using Inverse shifting-PCR for Inv22 and Inv1, followed by the analysis of the F8 gene coding region by means of high resolution melting (HRM) PCR and Sanger sequencing in Inv22 and Inv1 negative patients. A total of 33 male... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hemophilia A; Factor VIII; IS-PCR; HRM; Colombia. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500750 |
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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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