| Author | Cambraia, Amanda | |
| Author | Campos Junior, Mario | |
| Author | Zembrzuski, Verônica Marques | |
| Author | Junqueira, Ricardo Magrani | |
| Author | Cabello, Pedro Hernán | |
| Author | Cabello, Giselda Maria Kalil de | |
| Access date | 2021-04-09T20:17:18Z | |
| Available date | 2021-04-09T20:17:18Z | |
| Document date | 2021 | |
| Citation | CAMBRAIA, Amanda et al. Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort. Disease Markers, v. 2021, Article ID 9812074, 8p, 2021. | pt_BR |
| ISSN | 0278-0240 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/46616 | |
| Language | eng | pt_BR |
| Publisher | Hindawi | pt_BR |
| Rights | open access | |
| Subject in Portuguese | Sequenciamento | pt_BR |
| Subject in Portuguese | Próxima geração | pt_BR |
| Subject in Portuguese | Diagnóstico molecular | pt_BR |
| Subject in Portuguese | Coorte brasileira | pt_BR |
| Title | Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort | pt_BR |
| Type | Article | |
| DOI | 10.1155/2021/9812074 | |
| Abstract | Cystic fibrosis (CF), an autosomal recessive genetic disease, is recognized as one of the most prevalent diseases in Caucasian
populations. Epidemiological data show that the incidence of CF varies between countries and ethnic groups in the same region.
CF occurs due to pathogenic variants in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR),
located on chromosome 7q31.2. To date, more than 2,000 variants have been registered in the CFTR database. The study of
these variants leads to the diagnosis and the possibility of a specific treatment for each patient through precision medicine. In
this study, complete screening of CFTR was performed through next-generation sequencing (NGS) to gain insight into the
variants circulating in the population of Rio de Janeiro and to provide patient access to treatment through genotype-specific
therapies. Samples from 93 patients with an inconclusive molecular diagnosis were subjected to full-length screening of CFTR
using an Illumina NGS HiSeq platform. Among these patients, 46 had two pathogenic variants, whereas 12 had only one CFTR
variant. Twenty-four variants were not part of our routine screening. Of these 24 variants, V938Gfs∗37 had not been described
in the CF databases previously. This research achieved a molecular diagnosis of the patients with CF and identification of
possible molecular candidates for genotype-specific treatments. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Programa de Pós-Graduação em Biologia Celular e Molecular. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Zoonoses Bacterianas. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade do Grande Rio. Escola de Ciências da Saúde. Laboratório de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Programa de Pós-Graduação em Biologia Celular e Molecular. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Subject | Molecular Diagnosis | pt_BR |
| Subject | Cystic Fibrosis | pt_BR |
| Subject | Next-Generation Sequencing | pt_BR |
| Subject | Brazilian Cohort | pt_BR |
