Basic Genetics

Code:

MT119

Acronym:

G_BASI

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2004/2005 - 1S

Active?	Yes
Responsible unit:	Population Studies
Course/CS Responsible:	Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MED	160	Plano oficial a partir de 2003	1	3		-

Objectives

One will try introducing and stimulating in the pupils:

(i) a biological thought of integrated systems of cells, tissues and organisms and not of cells, tissues and isolated organisms;
(ii) to capacity of formulating these situations in mathematical models, using the concepts and identifying the mathematical techniques appropriated; as well as
(iii) to aptitude to value the adaptation of the model to the system that is intended to describe, namely through the interpretation of the results and of the development of the critical spirit regarding same.

Program

Presentation. Short history of the Genetics, big "divisions" of the Genetics.
The importance of the Genetics in Medicine. Effects of the genes in the health and in the disease
Program of the Human Genome and applications to the Medicine.
Formal genetics
Before and after Mendel. The "mendelism" as theoretical body.
Ways of hereditary succession mendeliana. Calculation of simple risks in pedigrees
“Diversions“ to a mendelism
Genetic connection and cromossome mapping of genes

Genetics of the Populations
Phenotypic variability and genotípica
Balance of Hardy and Weinberg for locus codominante, for gene tied to X and for multiple allels
Endogamy. Phenotypic consequences of the endogamy
Alteration of the genetic frequencies: small populations and genetic drift
Alteration of the genetic frequencies: change and migration
Alteration of the genetic frequencies: Selection - against the recessives, against the rulers, on behalf of the heterozigotes
Situations of genetic balance: heterosis, balance between change and selection
Dynamic of the Populations
Demography: charts of life and curves of survival

Main Bibliography

Lewis, Ricki, Human Genetics, Concepts and Applications, 5th ed, Mc Graw Hill, 2003
(especialmente capítulos 4, 5, 6, 7, 13 e 14)
- Griffiths, AJF, Miller JH, Suzuki D T, Lewontin R C, Gelbart WM, An Introduction to Genetic Analysis, W.H. Freeman and Company, NY, 2000
Alstad D. Basic POPULUS Models of Ecology, Prentice Hall, Upper Saddle River, NJ, 2001
- Hastings A. Population Biology: concepts and methods. Springer-Verlag, New York, 1997.

(Namely Chapters 2,4, 5, 6 and 24)

- Hartl D. A primer of Population Genetics. Sinauer Pub., 3rd ed., 2000.

Complementary Bibliography

- Andersson RM, May RM, Infectious Disease in Humans, Oxford University Press, NY, 1991
- Crow J e Kimura M. An Introduction to Population Genetics. Harper and Row, New York, 1970.
- Li CC. First Course in Population Genetics. Boxwood Press, Pacific Grove
- Vogel F e Motulsky A. Human Genetics (Problems and Approaches), 3rd ed., Springer-Verlag, Berlin, 1997.
- Cavalli-Sforza LL e Bodmer W F. The Genetics of Human Populations. W. H. Freeman and Co., San Francisco, 1971.

Teaching methods and learning activities

Theoretical expositive classrooms and seminars

Practical classrooms of exercises, mechanical simulations and simulations of computers

Software

http://ecology.umn.edu/populus (Programa POPULUS) http://www3.ncbi.nlm.nih.gov/omim (Online Mendelian Inheritance in Man) http://www3.ncbi.nlm.nih.gov/entrez (PubMed) http://www.genome.gov/glossary.cfm www.whfreeman.com/pierce/ (Genetics - Pierce) www.whfreeman.com/iga/ (Introduction to Genetic Analysis - Griffiths )

Evaluation Type

Distributed evaluation with final exam

Eligibility for exams

According to the general Law (2/3 practical classes)

Calculation formula of final grade

Arithmetical average of two frequencies or obtained note in the final examination