Basic Genetics

Code:

M125

Acronym:

GB

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2024/2025 - 2S (of 17-02-2025 to 13-06-2025)

Active?	Yes
Responsible unit:	Population Studies
Course/CS Responsible:	Integrated Masters Degree in Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIM	189	Official Study Plan	1	-	3	28	81

Teaching language

Portuguese

Objectives

With this discipline, we aim that the students: (i) understand the importance of Genetics in Medicine and in the daily clinical practice; (ii) raise hypothesis related with the observation of pedigrees, using concepts and mathematical approaches to identify the genetic causes responsible for certain diseases. We also aim that the students develop the critical thinking regarding the results; (iii) understand the evolution of the populations through the genetics frequencies.

Learning outcomes and competences

The students should be able to recognize the different inheritance patterns of a disease and to estimate the risk for the other relatives. Also, the students should be able to use the aproppriated methodologies to map genes in the genome and to estimate allelic and genotypic frequencies and to understand the reasons for the observed deviations. 

Working method

B-learning

Program

Introduction. Brief history of Genetics, the different divisions of Genetics. The importance of Genetics in Medicine. The effect of genes in health and disease. The Human Genome Project and its applications in Medicine. FORMAL GENETICS Before and after Mendel. Mendel's theories. Mendelian inheritance modes. Risk estimates in pedigrees. Mendelian deviations. Genetic linkage and gene mapping. General concepts and applications. Gene mapping responsible for mendelian diseases: lodscores estimations. POPULATION GENETICS: phenotypic and genotypic variabiliy. Estimates of allelic and genotypic frequencies. Hardy-Weinberg equilibrium for codominant locus, X-linked and multiple alleles. Endogamy. Phenotypic consequences of endogamy. Genetic frequencies alterations: small populations and genetic drift. Mutation and migration. Selection - against the recessives, dominants,advantages of heterozygous. Genetic equilibrium: heterosis, equilibrium between mutation and selection. 

Mandatory literature

Lewis Ricki; Human genetics. ISBN: 978-0-07-128310-6
Griffiths Anthony J. F. 070; introduction to genetic analysis. ISBN: 978-0-7167-6887-6

Complementary Bibliography

Read Andrew; New clinical genetics. ISBN: 978-1-904842-31-6
Klug William S.; Essentials of genetics. ISBN: 0-13-129029-0
Vogel F.; Human genetics. ISBN: 3-540-60290-9
King Richard A. ed.; genetic basis of common diseases. ISBN: 0-19-512582-7

Teaching methods and learning activities

Theoretical lectures and exercises.

Software

www.whfreeman.com/pierce/ (Genetics - Pierce)
http://www3.ncbi.nlm.nih.gov/omim (Online Mendelian Inheritance in Man)

keywords

General programmes > Basic programmes
General programmes > Basic programmes
Natural sciences
General programmes > Basic programmes > Basic programmes
Health sciences

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Designation	Weight (%)
Exame	80,00
Trabalho escrito	20,00
Total:	100,00

Amount of time allocated to each course unit

Designation	Time (hours)
Estudo autónomo	53,00
Frequência das aulas	28,00
Total:	81,00

Eligibility for exams

Assistance in the lectures with exercises

Calculation formula of final grade

Final Exame = 80% + Written Essay= 20%