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https://hdl.handle.net/10316/105249
Título: | GenEye24: Novel Rapid Screening Test for the Top-3 Leber's Hereditary Optic Neuropathy Pathogenic Sequence Variants | Autor: | Martins, Sara Santos, Maria João Teixeira, Márcia Diogo, Luisa Macário, Maria do Carmo Pedro Marques, João Fonseca, Pedro Grazina, Manuela |
Palavras-chave: | High-resolution melting; LHON; idebenone; mtDNA variant; real-time PCR; theranostics | Data: | 27-Jan-2023 | Editora: | Elsevier | Projeto: | CENTRO-01-0145-FEDER-000012-N2323 (HealthyAging2020) info:eu-repo/grantAgreement/POCI‐01‐0145‐FEDER-007440/PT info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UID/NEU/04539/2019/PT info:eu-repo/grantAgreement/FCT/FARH/SFRH/BD/86622/2012/PT/ESTABLISHING THE PATHOGENECITY OF NOVEL MITOCHONDRIAL DNA MUTATIONS: A CELL AND MOLECULAR BIOLOGY APPROACH info:eu-repo/grantAgreement/FCT/6820 - DCRRNI ID/PEst-C/SAU/LA0001/2013/PT/Strategic Project - LA 1 - 2013-2014 |
Título da revista, periódico, livro ou evento: | Mitochondrion | Volume: | 69 | Resumo: | Leber's Hereditary Optic Neuropathy (LHON) has been mainly (90-95%) associated to one of three variants: m.3460G>A, m.11778G>A, m.14484T>C. Herein, a screening method was developed for its detection, supporting clinical/therapeutics decision. It relies on real-time PCR with High-Resolution Melting (HRM) analysis. Variant classification is made using HRM Software and quality controls. Ninety-four samples were analyzed. All samples were correctly assigned: 58 wild-type, 35 positive for m.11778G>A, 6 positive for m.14484T>C, 2 positive for m.3460G>A. Results presented sensitivity=1, specificity=1, Positive Predictive Value=1 and Negative Predictive Value=1. A new Real-Time PCR/HRM screening method cost-efficient, simple, robust and quick, detecting LHON's top-3 is described. | URI: | https://hdl.handle.net/10316/105249 | ISSN: | 15677249 | DOI: | 10.1016/j.mito.2023.01.006 | Direitos: | openAccess |
Aparece nas coleções: | FMUC Medicina - Artigos em Revistas Internacionais I&D CIBB - Artigos em Revistas Internacionais I&D CNC - Artigos em Revistas Internacionais |
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Ficheiro | Descrição | Tamanho | Formato | |
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1-s2.0-S1567724923000065-main.pdf | 2.26 MB | Adobe PDF | Ver/Abrir |
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