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Genetic and Genotoxicity

Code: LTB31002     Sigla: GENG

Áreas Científicas
Classificação Área Científica
OFICIAL Ciências Biomédicas e da Vida

Ocorrência: 2021/2022 - 2S

Ativa? Yes
Unidade Responsável: Departamento de Sistemas e Informática
Curso/CE Responsável:

Ciclos de Estudo/Cursos

Sigla Nº de Estudantes Plano de Estudos Anos Curriculares Créditos UCN Créditos ECTS Horas de Contacto Horas Totais
LTB 32 Plano de Estudos 3 - 6 60 162

Docência - Responsabilidades

Docente Responsabilidade
Ana Rita de Heaton Ayres Ponce

Docência - Horas

Theorethical and Practical : 4,00
Type Docente Turmas Horas
Theorethical and Practical Totais 1 4,00
Ana Rita de Heaton Ayres Ponce 4,00

Língua de trabalho

Portuguese

Objetivos

Learning outcomes include the acquisition of skills in human genetics and notions of
genetic toxicology.

Resultados de aprendizagem e competências

Learning outcomes include the acquisition of skills in human genetics, considering the role of genomics
and proteomics to the more update knowledge. It is also expected that the student acquires notions of
genetic toxicology understanding the dynamics of DNA lesions of the human genome caused by chemical
and physical agents. Also acquisition of skills in genetic toxicology is a learning outcome, where the ability
to identify mutagenic and carcinogenic agents, to understand the biological doses and protective
procedures of toxic exposure of populations must be achieved. The expected outcomes of the theoreticalpractical
component are acquisition of skills for data analysis from genetics and from genetic toxicology
subjects. Mutation analysis and prediction of proteins damage, expression and immunostaining data and
also the prediction of biological risk of different agents such as radiation, heavy metals or phytotherapics
medicines are examples of learning outcomes.

Modo de trabalho

Presencial

Programa

Theoretical component
1.Human Genetics
Notions of heredity
Chromosomes and karyotype
Mitochondrial DNA haplogroups
Repair systems
Molecular
2.Molecular genetics
Genomics and proteomics
The role of RNA
Induced mutagenesis
Cell Transfection
Expression and cell immunostaining
3. Recombinant DNA techniques
Construction of recombinant molecules
Automated sequencing methods
Applications to genetics
4.Genetic toxicology
Genotoxic effects and toxicity
Mechanisms of DNA lesions and repair systems
Mutagens and carcinogens
Genotoxic risk
Biomonitoring of populations

Theoretical-practical component
Karyotypes and cytogenetic techniques
Short-term tests: Ames test, chromosome aberration test, micronuclei test and sister chromatids exchange
test
Comet assay (SCGE)
Cell culture techniques
PCR techniques
Electrophoresis techniques
Induced mutagenesis techniques
Analysis of DNA / RNA sequences
Assessing the cancer risk
Data analysis of cellular toxicity

Bibliografia Obrigatória

Hartl, D. and Bruce Cochrane; Analysis of Genes and Genomes, Jones and Bartlet, 2017. ISBN: ISBN: 9781284122930  
Mark F. Sanders, ; Genetic Analysis: An Integrated Approach, GlobalEdition, Pearson (Intl) , 2016. ISBN: ISBN: 9781292092362

Bibliografia Complementar

Griffiths AJF, Wessler SR et al.; An Introduction to Genetic Analysis, W. H. Freeman., 2015. ISBN: ISBN: 978-1-4641-0948-5 (https://www.ncbi.nlm.nih.gov/books/NBK21766/)
Sharbel Weidner Maluf; Mariluce Riegel; ; Citogenética Humana. , Artmed, 2011. ISBN: ISBN: 9788536324999
Tom Strachan and Andrew Read. ; Genética Molecular Humana, Artmed, 2013. ISBN: ISBN: 9788565852517
Casarett e Doull ; Fundamentos em Toxicologia, McGraw-Hill. New York, 2010. ISBN: ISBN 0071622403
James D. Watson; Richard M. Myers; Amy A. Caudy; Jan A.Witkowski; DNA Recombinante Genes e Genomas, Artmed, 2009. ISBN: 9788536313757

Métodos de ensino e atividades de aprendizagem

The teaching methodologies are based on an expository-participatory methodology, that in the theoretical
component allow the use of audiovisual media and moments of discussion in class. The theoretical and
practical component based on solving exercises and interpretation of experimental results using different
approaches, namely different software’s for data analyses is designed to complement and consolidate the
knowledge acquired in the theoretical contents. The evaluation of UC is continuous and involves moments of individual assessment.

Tipo de avaliação

Distributed evaluation with final exam

Componentes de Avaliação

Designation Peso (%)
Teste 100,00
Total: 100,00

Componentes de Ocupação

Designation Tempo (Horas)
Estudo autónomo 108,00
Frequência das aulas 60,00
Total: 168,00

Obtenção de frequência

Continuous assessment : two tests (50% + 50%); or final exam counting 100% if the student did not passed through continuous assessment.

(Note: in order to pass by continuous assessment the final grade must be superior to 9,5 point and evaluation moment must have a minimal grade of 8 points)

Fórmula de cálculo da classificação final

Continuous assessment: final grade = grade from 1st test/2 + grade from second test/2
Ou exam counting 100% if the student did not passed through continuous assessment.
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