Formal and Population Genetics

Code:

BIOL2008

Acronym:

BIOL2008

Level:

200

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2024/2025 - 1S

Active?	Yes
Responsible unit:	Department of Biology
Course/CS Responsible:	Bachelor in Biology

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
L:B	159	Official Study Plan	2	-	6	48	162
L:BIOINF	31	Official Study Plan	2	-	6	48	162

Teaching language

Suitable for English-speaking students

Objectives

To provide students with basic concepts and methodologies in Formal and Population Genetics.

Learning outcomes and competences

It is expected that the acquired conceptual background and analytical skills will be helpful in the fields of teaching, research and others with more applied purposes.

Working method

Presencial

Program

THEORETICAL CLASSES

1. Formal Genetics
Mendelian theory of heredity. Mendel’s experiments and laws.
Intra-allelic Interactions: dominance, recessivity, codominance.
Multiallelism.
Phenotypic expression and gene interactions.
Penetrance and expressivity.
Lethal genes. Epistasy. Pleiotropy.
Transmission patterns: homogametic and heterogametic systems.
Extra-nuclear genomes transmission: mitochondrial DNA.
Simultaneous analysis of two or more loci.
Linkage; recombination fraction; map distance.
Gene mapping; somatic cell hybridization; in situ hybridization.
Relationship between genetic and physical maps.

2. Population Genetics
Concept of population. Estimating gene frequencies by direct counting.
Hardy-Weinberg Principle. Applicability conditions. Autosomal and heterosomal loci. Testing the equilibrium.

3. Extension of the Hardy-Weinberg Principle to two loci.
Haplotype and genotype frequencies at equilibrium.
Departures from Hardy-Weinberg expectations. Causes.
Gametic determinant. Other measures of linkage disequilibrium.
Approach to gametic equilibrium.
Analysing patterns of linkage disequilibrium. Dating mutations. Association studies.

4. Mutation
Estimating mutation rates: direct and indirect methods.
Examples and applications.

5.Selection
Selection against an allele. Selection against homozygous or heterozygous genotypes.
Examples and applications

6. Migration
Migration rates. Modelling migration.
Examples and applications

7. Inbreeding
Mating systems. Positive systematic inbreeding
Identity by descent. Inbreeding coefficient. Consequences of inbreeding.

8. Introduction to quantitative genetics
Quantitative traits. Genotype-phenotype interactions
The model of norm of reaction of genotypes. Heritability.

PRACTICAL CLASSES

Inference of patterns of inheritance.
Genetic risk calculation.
Linkage analysis and construction of genetic maps.
Estimating gene frequencies in populations. Testing Hardy-Weinberg equilibrium.
Biological Affiliation.
Inbreeding.
Quantitative genetics.

Mandatory literature

000102476. ISBN: 978-0-7167-6887-6
000097649. ISBN: 9780763715113
000092248
000102479. ISBN: 978-1-4051-2145-3

Complementary Bibliography

000068613. ISBN: 0-471-58822-9
000073513. ISBN: 972-8704-12-7
000067143. ISBN: 978-0-471-93234-5 0-471-93234-5
000067078
000083871. ISBN: 972-662-874-1

Teaching methods and learning activities

Theoretical classes: expositive lectures interspersed with periods of open discussion
Practical classes: participated through the organization of problem solving teams

Evaluation Type

Distributed evaluation with final exam

Assessment Components

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

Amount of time allocated to each course unit

designation	Time (hours)
Frequência das aulas	48,00
Total:	48,00

Eligibility for exams

Presence in at least 2/3 of practical classes.

Calculation formula of final grade

The evaluation will consist in making a final exam or two assessment tests.

ASSESSMENT TESTS: the first assessment test will be held at middle of the semester, during the time of a theoretical lecture; the second assessment test will be held at the date of the examination of the regular examination season. Each assessment test is composed of a theoretical part (12 points) and a practical one (8 points). Final classification: average result of the two tests.
Those who choose to make the assessment tests CANNOT perform the exam of the regular examination season.
Students who were not approved with the set of assessment tests may take the exam at the time of the appeal examination season.

EXAM: consists of a theoretical part (12 points) and a practical one (8 points).

For the set of two frequencies or the exam is required a minimum of thirty percent in each of the parts of the examination (theoretical and practical).

The approval at the UC is obtained with a final classification equal to or greater than 9.5 values.

Examinations or Special Assignments

See “Calculation of final grade”.

Special assessment (TE, DA, ...)

-

Classification improvement

Using the subsequent examination seasons, according to the Faculty general regulations.

Observations

Coordinating Teacher: Agostinho Antunes