Genetics

Code:

CN22005

Acronym:

GENET

Keywords
Classification	Keyword
OFICIAL	Health Sciences
OFICIAL	Natural Sciences

Instance: 2017/2018 - 2S

Active?	Yes
Course/CS Responsible:	Nutrition Sciences

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
CNUP	89	Plano oficial	2	-	3	28	81

Teaching language

Portuguese

Objectives

The main aim of this course unit is to enable acquisition of basic knowledge on Human Genetics, on its main aspects: Molecular Genetics, Cytogenetics, Mendelian and Non-Mendelian Genetics and Population Genetics.

Learning outcomes and competences

The expected results are the following:
- to understand the genetic basis of human disease
- to know when to suspect that one is before a patient with a genetic disease
- to know how to advise a patient with a genetic disease
- to learn the type of genetic testa available, indications and limitations thereof
- to know how to interpret basic genetic results

Working method

Presencial

Program

Substrate of genetical information
Principles of recombinant DNA technology: Southern blotting, RFLP and PCR; screening and detection of mutations
Mendelian and non-mendelian heredity (including multifactorial heredity); analysis of genealogy and risk calculation
Chromosomal organization of the genome
a. Study techniques of cytogenetics (from traditional cytogenetics to molecular cytogenetics)
b. Defects of chromosomal number, structure and nomenclature
Autosomal and heterosomal chromosomopathies
Population genetics
Metabolism diseases of amino acids and lipids
Genetics and cancer
Prenatal screening and diagnosis of genetic diseases
Genetic therapy

Mandatory literature

Robert F. Mueller, Ian D. Young. ; Emery´s Elements of Medical Genetics, Churchill Livingstone, ed. mais recente
Ricki Lewis; Human Genetics, McGraw Hill, última edição

Teaching methods and learning activities

Theoretical classes; visits to the Genetics Service laboratory of the Faculty of Medicine of the University of Porto; notes; reference books and scientific articles

Evaluation Type

Distributed evaluation without final exam

Assessment Components

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

Calculation formula of final grade

The final mark (between 0 and 20) will be equal to the score of the examination.

Observations

Compulsory
Language of Teaching : Portuguese