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Authors
Advisor(s)
Abstract(s)
A obesidade é uma epidemia que tem vindo a afetar cada vez mais os países
industrializados. Esta é uma condição clinica com uma componente genética que aos poucos vai
sendo descodificada onde as tecnologias de NGS dão um grande contributo.
Neste trabalho, são analisadas amostras provenientes de 36 pacientes obesos que apartir de
uma amostra de células do epitélio bucal foi efectuada uma extracção de DNA e feita uma análise em
NGS com o objectivo de procurar variantes num painel de genes associados à obesidade.
Foram obtidas 183 variantes snv, 2 inserções e 1 delecção, sendo 141 destas
heterozigóticas. Foram identificadas duas mutações missense ainda não descritas para os genes
LRP2 12385A>G e SORCS1 2491A>C. Foram ainda identificadas 2 amostras com mutações
possivelmente danosas, segundo a previsão polyphen, para o gene POMC.
A tecnologia NGS representa assim um equipamento com potencial não só para auxilio e
confirmação de diagnósticos clínicos, como também abre a porta para estratégias de tratamento
personalizáveis.
Nowadays obesity is an epidemy that has been affecting industrialized countries. This is a clinical condition with a genetic component were technological evolution, like NGS, give a grate contribute towards scientific and medical evolution. In this project, DNA samples were extracted via mouth epitilial cells from 36 obese patients. DNA was sequenced and analyzed by NGS with the intent of finding variants in a gene panel associated with obesity. The results showed 183 single nucleotide variations, 2 insertions and 1 deletion, 141 of with were heterozygous. It was identified 2 missense mutations not yet described for the genes LRP2 12385A>G and SORCS1 2491A>C. There were also identified 2 samples that carried a possibly damaging mutation for the POMC gene, according to polyphen prevision. NGS technology demonstrates a potential in aiding and confirming a clinical diagnosis, allowing also the development for a personalized treatment.
Nowadays obesity is an epidemy that has been affecting industrialized countries. This is a clinical condition with a genetic component were technological evolution, like NGS, give a grate contribute towards scientific and medical evolution. In this project, DNA samples were extracted via mouth epitilial cells from 36 obese patients. DNA was sequenced and analyzed by NGS with the intent of finding variants in a gene panel associated with obesity. The results showed 183 single nucleotide variations, 2 insertions and 1 deletion, 141 of with were heterozygous. It was identified 2 missense mutations not yet described for the genes LRP2 12385A>G and SORCS1 2491A>C. There were also identified 2 samples that carried a possibly damaging mutation for the POMC gene, according to polyphen prevision. NGS technology demonstrates a potential in aiding and confirming a clinical diagnosis, allowing also the development for a personalized treatment.
Description
Trabalho final de mestrado para obtenção do grau de mestre em Engenharia Biomédica
Keywords
Obesidade Obesity Obesidade monogénica Monogénic obesity Next-Generation Sequencing NGS
Citation
SERRASQUEIRO, Bernardo Afonso - A utilização da "Next-Genaration Sequencing" no estudo da obesidade monogénica. Lisboa: Instituto Superior de Engenharia de Lisboa - Escola Superior de Tecnologia da Saúde de Lisboa, 2018. Dissertação de mestrado.
Publisher
Instituto Superior de Engenharia de Lisboa - Escola Superior de Tecnologia da Saúde de Lisboa