Genetics
Keywords |
Classification |
Keyword |
OFICIAL |
Health Sciences |
OFICIAL |
Natural Sciences |
Instance: 2011/2012 - 2S
Cycles of Study/Courses
Acronym |
No. of Students |
Study Plan |
Curricular Years |
Credits UCN |
Credits ECTS |
Contact hours |
Total Time |
CNUP |
102 |
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.
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
Evaluation with final exam
Assessment Components
Description |
Type |
Time (hours) |
Weight (%) |
End date |
Attendance (estimated) |
Participação presencial |
26,00 |
|
|
|
Total: |
- |
0,00 |
|
Observations
Compulsory
Language of Teaching : Portuguese