Formal and Population Genetics

Code:

B165

Acronym:

B165

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2010/2011 - 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	236	Plano de estudos a partir de 2008	2	-	7,5	70	202,5

Teaching language

Portuguese

Objectives

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

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: 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. Modeling 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

Mandatory literature

GRIFFITHS AJF, LEWONTIN RC, CARROLL SB, WESSLER S, WESSLER SR ; Introduction to Genetic Analysis, W.H. Freeman & Co, 2007
HAMILTON MB ; Population Genetics, Wiley-Blackwell, 2009
HARTL DL, CLARK G ; Principles of Population Genetics , Sinauer and Associates, 2007
HEDRICK PW ; Genetics of populations, Jones & Bartlett Publishers, 1985
KLUGS WS, CUMMINGS MR ; Concepts of Genetics , Prentice-Hall, INC. New Jersey., 1997
MANGE & MANGE ; Genetics: human aspects, Sinauer Associates, 1990

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

Description	Type	Time (hours)	Weight (%)	End date
Attendance (estimated)	Participação presencial	70,00
	Total:	-	0,00

Calculation formula of final grade

Two assessments tests (held at middle and end of the semester) each comprising a theoretical part (12 points) and a practical one (8 points). Final classification: average result of the two tests.

OR
Final examination comprising a theoretical part (12 points) and a practical part (8 points).

Observations

BIBLIOGRAPHY

GRIFFITHS AJF, LEWONTIN RC, CARROLL SB, WESSLER S, WESSLER SR (2007). Introduction to Genetic Analysis. W.H. Freeman & Co.
HAMILTON MB (2009) Population Genetics. Wiley-Blackwell.
HARTL DL, CLARK G (2007) Principles of Population Genetics (4th ed). Sinauer and Associates.
HEDRICK PW (1985) Genetics of populations. Jones & Bartlett Publishers.
KLUGS WS, CUMMINGS MR (1997) Concepts of Genetics (5th ed). Prentice-Hall, INC. New Jersey.
MANGE & MANGE (1990)- Genetics: human aspects. Sinauer Associates.
TAMARIN RH (1996) Principles of Genetics. WM C Brown Publishers.