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Publication
As técnicas de genética molecular na investigação e diagnóstico em bioquímica clínica
| Name: | Description: | Size: | Format: | |
|---|---|---|---|---|
| PPG_27314 | 1.89 MB | Adobe PDF |
Advisor(s)
Abstract(s)
Os erros hereditários do metabolismo, são responsáveis por um conjunto alargado de doenças. Este tipo de doenças é raro, o que leva a que haja poucos indivíduos para estudo, tornando a investigação e diagnóstico deste tipo de doenças árduo. Com a associação destas doenças a erros no DNA, a comunidade científica iniciou a utilização de técnicas de genética molecular para estas tarefas, tornando o diagnóstico assim como a investigação mais fácil e rápida.
O uso da reação em cadeia da polimerase (PCR) cujo objetivo é a amplificação de sequências específicas de ácidos nucleicos, consegue identificar a presença ou não de uma determinada mutação num individuo o que é muito útil para o diagnóstico das doenças metabólicas. Evoluções nesta técnica conseguiram acentuar ainda mais a importância das técnicas de genética molecular no diagnóstico em medicina. Outra tecnologia genética muito importante nas doenças metabólicas é a sequenciação de ácidos nucleicos. Com efeito, a capacidade de ler a sequência de genomas inteiros ou parciais, revolucionou a genética e o seu uso, como ferramenta de investigação e diagnóstico. As maiores desvantagens da sequenciação são os custos associados, e a necessidade de realizar o pós-processamento de um elevado volume de dados. Contudo, espera-se que futuros desenvolvimentos tornem estas tecnologias ainda mais fáceis de interpretar e mais acessíveis à comunidade, maximizando o seu potencial para o diagnóstico assim como o seu poder na identificação de novas mutações responsáveis por doenças.
É importante referir como estas tecnologias funcionam, assim como a maneira como estas podem ajudar nas doenças hereditárias do metabolismo. Com este trabalho espera-se dar ao leitor uma visão alargada das diferentes técnicas de genética molecular disponíveis atualmente, como funcionam, vantagens e desvantagens, e demonstrar com exemplos práticos o quão vantajosas podem ser estas tecnologias nesta área da medicina.
Inborn errors of metabolism are responsible for a large number of diseases. This type of diseases is rare, resulting in few individuals for study, which makes investigation and diagnosis of this type of diseases hard. The association of these diseases to DNA errors has led the scientific community to use molecular genetic technologies for their diagnosis and investigation making its study easier and quicker. The use of the polymerase chain reaction (PCR) and its derivatives, for the amplification of specific DNA sequences leads to the identification of the presence or absence of a certain mutation in an individual which is highly useful for the diagnosis of metabolic diseases. Evolutions of these techniques have managed to make the molecular genetics a staple on the laboratory diagnostics in medicine. Another essential genetic technique for the diagnosis of metabolic diseases is sequencing. In fact, the ability to read fully or in part an individual’s genome has revolutionized genetics and its use as an investigation and diagnostic tool. The major disadvantages of sequencing are its associated cost, and the need for the post-processing of the high volume of data collected. In spite of that, future developments are expected to make these technologies easier to use and more accessible to the community, maximizing their power for the diagnosis and for the identification of new disease causing mutations. It is important to refer how these technologies work, as well as how they can help study and detect inborn errors of metabolism. With the present work weexpected to give the reader an overview of the different molecular genetics techniques available nowadays, explaining how they work, it’s associated advantages and disadvantages, and to show, with practical examples, how advantageous can these technologies be in this area of medicine.
Inborn errors of metabolism are responsible for a large number of diseases. This type of diseases is rare, resulting in few individuals for study, which makes investigation and diagnosis of this type of diseases hard. The association of these diseases to DNA errors has led the scientific community to use molecular genetic technologies for their diagnosis and investigation making its study easier and quicker. The use of the polymerase chain reaction (PCR) and its derivatives, for the amplification of specific DNA sequences leads to the identification of the presence or absence of a certain mutation in an individual which is highly useful for the diagnosis of metabolic diseases. Evolutions of these techniques have managed to make the molecular genetics a staple on the laboratory diagnostics in medicine. Another essential genetic technique for the diagnosis of metabolic diseases is sequencing. In fact, the ability to read fully or in part an individual’s genome has revolutionized genetics and its use as an investigation and diagnostic tool. The major disadvantages of sequencing are its associated cost, and the need for the post-processing of the high volume of data collected. In spite of that, future developments are expected to make these technologies easier to use and more accessible to the community, maximizing their power for the diagnosis and for the identification of new disease causing mutations. It is important to refer how these technologies work, as well as how they can help study and detect inborn errors of metabolism. With the present work weexpected to give the reader an overview of the different molecular genetics techniques available nowadays, explaining how they work, it’s associated advantages and disadvantages, and to show, with practical examples, how advantageous can these technologies be in this area of medicine.
Description
Keywords
PCR Sequenciação Erros hereditários do metabolismo Diagnóstico molecular Investigação genética Mutação Análise do DNA PCR Sequencing Inborn errors of metabolism Molecular diagnostics Genetic investigation Mutation DNA analysis