Genetics I

Year
2
Academic year
2015-2016
Code
01014201
Subject Area
Morphology, Structure and Function
Language of Instruction
Portuguese
Mode of Delivery
Face-to-face
Duration
SEMESTRIAL
ECTS Credits
2.5
Type
Compulsory
Level
1st Cycle Studies

Recommended Prerequisites

 Teachings of curricular units Molecular and Celular Biology I and II and Biochemistry I and II.

Teaching Methods

Theoretical and practical teaching.

Learning Outcomes

To know the basic nomenclature used in Gentics. To know how to define genes and genome and the evolution of genes and genomes, the organization of human genes and genome and the regulation of gene expression. To know the underlying mechanisms of the interaction between genome and environment and genetic variability.  To know the different types of mutations and the underlying mechanisms of DNA mutation and repair. To know DNA technology and gene mapping and identification. Identify and describe the mendelian and non-mendelian patterns of inheritance. To know the basis and applications of population genetics. To describe cell cycle regulatory mechanism, apoptosis and cellular senescence. To describe the different types of chromosomes and the mechanisms conducing to numerical and structural chromosomal abnormalities. To understand the genetic basis of human development, the genetic dose effect, and the sexual determination and differentiation.

Work Placement(s)

No

Syllabus

History and impact of Genetics. Basic nomenclature in Genetics. Molecules with informative capacity. Genes and genome evolution. Genes and human genome structure. Regulation of gene expression. Genes and environmental effects. Epigenetics. Human genetic variability. Genetic mutations. DNA repair. DNA technology. Mapping and identifying genes and their function. Patterns of inheritance - mendelian inheritance, polygenic and multifactorial inheritance, imprinting, mitochondrial inheritance. Population genetics. Cell division and cell cycle regulation. Apoptosis. Cellular senescence. Chromosomes and caryotype. Numerical and structural chromosomal abnormalities. Developmental genetics.

Head Lecturer(s)

Fernando Jesus Regateiro

Assessment Methods

Assessment
Mini Tests: 25.0%
Exam: 75.0%

Bibliography

- Emery's Elements of Medical genetics, 14th edition. Turnpenny and Ellard. Churchill Livingstone, 2011.

- Human Molecular Genetics, 4th edition. Tom Strachan and Andrew Read. Garland Science, 2011. 

- Manual de Genética Médica, 1ª edição. Fernando J. Regateiro. Imprensa da Universidade de Coimbra, 2003.

- Medical Genetics, 4th edition. Jorde, Carey and Bamshad. Mosby, 2010.

- Essentials of Genetics, 7th edition. Klug, Cummings, Spencer and Palladino. Perason, 2010.

- Practical Genetic Counselling, 7th edition. Peter S. Harper. Hodder Arnold, 2010.

- Introduction to Risk Calculation in Genetic Counselling, 3rd edition. Ian D, Young. Oxford University Press, 2007.

- Epigenetics. Wallach, Lan and Schrauzer. Select Books Inc, 2014