Laboratory protocols of molecular analysis for the investigation of genetic diseases
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Clinical and Biomedical Research |
Texto Completo: | https://seer.ufrgs.br/index.php/hcpa/article/view/126032 |
Resumo: | The application of molecular analysis in the investigation of genetic diseases has been used as routine evaluation in laboratories worldwide in the last decade. More recently, the identification of specific mutations responsible for hereditary disorders made molecular diagnosis quicker and more efficient, making this analysis an excellent tool for the diagnosis of many diseases. Several techniques can be used and, among them, the Polymerase Chain Reaction (PCR) was a mark in the “molecular era”. In the last few years, the procedures have been automated gradually, which will allow the realization of a greater number of tests in a limited amount of time. The use of knowledge in Molecular Biology Techniques has been applied in many fields of Medicine. The advances made in the last decade demonstrate a huge potential of these technologies, which can be used not only for diagnosis, but also for treatment and prevention of hereditary disorders. The perspectives for the new century are very promising and indicate the possibility of great advances in the treatment of genetic diseases. The present article describes the main techniques used in the molecular analysis for the investigation of genetic diseases. |
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Laboratory protocols of molecular analysis for the investigation of genetic diseasesProtocolos laboratoriais de análise molecular para investigação de doenças genéticasDoenças genéticasanálise molecularPCRGenetic diseasesmolecular analysisPCRThe application of molecular analysis in the investigation of genetic diseases has been used as routine evaluation in laboratories worldwide in the last decade. More recently, the identification of specific mutations responsible for hereditary disorders made molecular diagnosis quicker and more efficient, making this analysis an excellent tool for the diagnosis of many diseases. Several techniques can be used and, among them, the Polymerase Chain Reaction (PCR) was a mark in the “molecular era”. In the last few years, the procedures have been automated gradually, which will allow the realization of a greater number of tests in a limited amount of time. The use of knowledge in Molecular Biology Techniques has been applied in many fields of Medicine. The advances made in the last decade demonstrate a huge potential of these technologies, which can be used not only for diagnosis, but also for treatment and prevention of hereditary disorders. The perspectives for the new century are very promising and indicate the possibility of great advances in the treatment of genetic diseases. The present article describes the main techniques used in the molecular analysis for the investigation of genetic diseases.A aplicação da análise molecular na investigação de doenças genéticas começou a ser utilizada como avaliação rotineira em laboratórios no decorrer da última década. Mais recentemente, a identificação de mutações específicas responsáveis por doenças hereditárias tornou o diagnóstico molecular mais rápido e eficaz, fazendo desta análise uma ótima ferramenta para diagnóstico de muitas destas doenças. Diversas técnicas laboratoriais são utilizadas para a análise molecular de doenças genéticas. Dentre estas destaca-se a reação em cadeia da polimerase (Polymerase Chain Reaction - PCR), que foi um marco na “era molecular”. Nos últimos anos, os procedimentos vem sendo automatizados gradativamente, o que irá propiciar a realização de maior número de testes num curto espaço de tempo. O uso dos conhecimentos da Biologia Molecular vem sendo aplicado nas mais variadas áreas da Medicina. No campo da genética molecular, os avanços das últimas décadas demostram um enorme potencial desta tecnologia, que pode ser utilizada não somente no diagnóstico mas também no tratamento e prevenção de doenças hereditárias. As perspectivas para o novo século são bastante promissoras e indicam a possibilidade de grandes avanços no tratamento de doenças. O presente artigo descreve as principais técnicas de análise molecular utilizadas para a investigação de doenças genéticas.HCPA/FAMED/UFRGS2022-07-22info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionPeer-reviewed Article"A Convite dos Editoresapplication/pdfhttps://seer.ufrgs.br/index.php/hcpa/article/view/126032Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPAClinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA2357-9730reponame:Clinical and Biomedical Researchinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSporhttps://seer.ufrgs.br/index.php/hcpa/article/view/126032/85600http://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessL. S. Pereira, Maria Leistner, Sandra Matte, Úrsula 2022-07-22T13:58:17Zoai:seer.ufrgs.br:article/126032Revistahttps://www.seer.ufrgs.br/index.php/hcpaPUBhttps://seer.ufrgs.br/index.php/hcpa/oai||cbr@hcpa.edu.br2357-97302357-9730opendoar:2022-07-22T13:58:17Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.none.fl_str_mv |
Laboratory protocols of molecular analysis for the investigation of genetic diseases Protocolos laboratoriais de análise molecular para investigação de doenças genéticas |
title |
Laboratory protocols of molecular analysis for the investigation of genetic diseases |
spellingShingle |
Laboratory protocols of molecular analysis for the investigation of genetic diseases L. S. Pereira, Maria Doenças genéticas análise molecular PCR Genetic diseases molecular analysis PCR |
title_short |
Laboratory protocols of molecular analysis for the investigation of genetic diseases |
title_full |
Laboratory protocols of molecular analysis for the investigation of genetic diseases |
title_fullStr |
Laboratory protocols of molecular analysis for the investigation of genetic diseases |
title_full_unstemmed |
Laboratory protocols of molecular analysis for the investigation of genetic diseases |
title_sort |
Laboratory protocols of molecular analysis for the investigation of genetic diseases |
author |
L. S. Pereira, Maria |
author_facet |
L. S. Pereira, Maria Leistner, Sandra Matte, Úrsula |
author_role |
author |
author2 |
Leistner, Sandra Matte, Úrsula |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
L. S. Pereira, Maria Leistner, Sandra Matte, Úrsula |
dc.subject.por.fl_str_mv |
Doenças genéticas análise molecular PCR Genetic diseases molecular analysis PCR |
topic |
Doenças genéticas análise molecular PCR Genetic diseases molecular analysis PCR |
description |
The application of molecular analysis in the investigation of genetic diseases has been used as routine evaluation in laboratories worldwide in the last decade. More recently, the identification of specific mutations responsible for hereditary disorders made molecular diagnosis quicker and more efficient, making this analysis an excellent tool for the diagnosis of many diseases. Several techniques can be used and, among them, the Polymerase Chain Reaction (PCR) was a mark in the “molecular era”. In the last few years, the procedures have been automated gradually, which will allow the realization of a greater number of tests in a limited amount of time. The use of knowledge in Molecular Biology Techniques has been applied in many fields of Medicine. The advances made in the last decade demonstrate a huge potential of these technologies, which can be used not only for diagnosis, but also for treatment and prevention of hereditary disorders. The perspectives for the new century are very promising and indicate the possibility of great advances in the treatment of genetic diseases. The present article describes the main techniques used in the molecular analysis for the investigation of genetic diseases. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-07-22 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Peer-reviewed Article" A Convite dos Editores |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://seer.ufrgs.br/index.php/hcpa/article/view/126032 |
url |
https://seer.ufrgs.br/index.php/hcpa/article/view/126032 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://seer.ufrgs.br/index.php/hcpa/article/view/126032/85600 |
dc.rights.driver.fl_str_mv |
http://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
http://creativecommons.org/licenses/by/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
HCPA/FAMED/UFRGS |
publisher.none.fl_str_mv |
HCPA/FAMED/UFRGS |
dc.source.none.fl_str_mv |
Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPA Clinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA 2357-9730 reponame:Clinical and Biomedical Research instname:Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS |
instname_str |
Universidade Federal do Rio Grande do Sul (UFRGS) |
instacron_str |
UFRGS |
institution |
UFRGS |
reponame_str |
Clinical and Biomedical Research |
collection |
Clinical and Biomedical Research |
repository.name.fl_str_mv |
Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS) |
repository.mail.fl_str_mv |
||cbr@hcpa.edu.br |
_version_ |
1799767057483431936 |