Population human genetics

advanced

BI2_W01, BI2_W02, BI2_U01, BI2_U02, BI2_U03, BI2_U07, BI2_K05, BI2_K06

Descripition of biological variation in populations using the concept of gene pool and its static an dynamic characteristics. Application of quantitative methods for comparisons between populations and for description of their evolutionary changes. Determination of the influence of directional (natural selection, mutations) and non-directional forces of evolution (drift, inbreeding, assorative mating, gene flow) on the gene pool. Application of population genetic methods in studies of human evolution and microevolution.

Biological variation, its causes and effects. Phenotypic and genotypic variation. Mechanisms of gene action, Methods of measuring variation – qualitative and quantitative characteristics of a population. Polymorphism,

Genes in populations. Hardy-Weinberg rule, concepts of Mendelian genetics – alleles and genotypes. Interactions among alleles. Heritability of phenotypic characters.

Directional forces of evolution: Mutations, neutral evolution, mutation-selection equilibrium as a result of Probeble Muation Effects. The necessity of selection. Artificial selection and vicissitudes of eugenics. Sexual selection in humans.

Natural selection, its definition. Darwinian fitness, Gradualism, punctuations. Forms of natural selection – stabilizing and directional, their examples in human populations. Measures of the opportunity for natural selection.

Genes in an isolated population. Genetic drift, inbreeding and their effects. Measuring inbreeding – kinship and inbreeding coefficients. Isonymy. Positive and negative assortative mating. The level of inbreeding in human populations.

Gene flow and its effects. Influence of neighbor contacts and mass migrations on genetic structure of populations and of the entire species. The concept of isolation by distance and genetic distances among human populations.

Interpretation of past and future human evolution in terms of population genetics.

Basic literature:

1. Cavalli-Sforza L.L., Bodmer W.F., 1971. The Genetics of Human Populations. W. H. Freeman and Company, San Francisco;

2. Falconer D.S., 1974. Dziedziczenie cech ilościowych, PWN, Warszawa;

3. Malinowski A., Strzałko J. (red.), 1985. Antropologia, PWN, Warszawa - Poznań

Supplementary reading:

1. Bielicki T., Welon Z., 1962. Działanie doboru naturalnego na kształt głowy, Materiały i Prace Antropologiczne 59, 39-45;

2. Budnik A., 1991. Odziedziczalność cech dermatoglificznych człowieka – próba nowego podejścia metodycznego, Wydawnictwo Naukowe UAM, Poznań;

3. Budnik A., 2005. Uwarunkowania stanu i dynamiki biologicznej populacji kaszubskich w Polsce. Studium antropologiczne, Wydawnictwo Naukowe UAM, Poznań;

4. Budnik A., 2000. Genetic structure of historical and contemporary Kashubian populations In Poland. [In:] Human Population Genetics In Europe, (eds.) Susanne Ch., Bodzsár É. B., Eötvös University Press, Budapest, 39-58;

5. Cavalli-Sforza L.L., Menozzi P., Piazza A., 1994. The History and Geography of Human Genes. Princeton University Press, Princeton, New Jersey;

6. Crawford M., 2007. Anthropological Genetics. Cambridge University Press, Cambridge;

7. Crow J. F., 1958. Some Possibilities for Measuring Selection Intensities in Man, Human Biology, 30, 763-775;

8. Crow J. F., Mange A. P., 1965. Measurement of inbreeding from the frequency of marriages between persons of the same surname, Eugenics Quartely, 12, 199-203;

9. Hartl D. L., Clark A. G., 2009. Podstawy genetyki populacyjnej. Wydawnictwo Uniwersytetu Warszawskiego, Warszawa;

10. Henneberg M. ,1975. Notes on the reproduction possibilities of human prehistorical populations, Przegląd Antropologiczny, 41, 75-89;

11. Henneberg M., 1876. The influence of natural selection on brachycephalization in Poland, Studies in Physical Anthropology, 3, 3-19;

12. Henneberg M., 1983. Redukcje strukturalne w mikroewolucji H.sapiens, Przegląd Antropologiczny, 49, 57-76;

13. Henneberg M., 1978, Ocena dynamiki biologicznej wielkopolskiej dziewiętnastowiecznej populacji wiejskiej. III. Opis stanu puli genów na podstawie danych demograficznych, Przegląd Antropologiczny 44, 33-52

14. Henneberg M. ,1979. Breeding isolation between populations; theoretical model of mating distances distribution, Studies in Physical Anthropology, 5, 81-94;

15. Henneberg M., Henneberg R., 1980. Ocena wpływu różnych źródeł na zmienność fenotypową człowieka, Przegląd Antropologiczny, 46, 297-307;

16. Henneberg M., Budnik A., Pezacka M., Puch A. E., 1984. Mechanizm procesu brachycefalizacji: różnicowa wrażliwość na choroby inwazyjne wieku dziecięcego. Doniesienie wstępne, Przegląd Antropologiczny 50, 325-333;

17. Henneberg M., Lewicki P.,1978. Ekosensytywność cech metrycznych - próba innego ujęcia metodycznego, Przegląd Antropologiczny, 44, 87-102;

18. Henneberg M., Piontek J., 1975, Biological State Index of Human Groups, Przegląd Antropologiczny 41, 191-200;

19. Krzanowska H., Łomnicki A., Rafiński J., 1982. Wprowadzenie do genetyki populacji. PWN, Warszawa;

20. Krzanowska H., Łomnicki A., Rafiński J., Szarski H., Szymura J. M., 1995. Zarys mechanizmów ewolucji. PWN, Warszawa;

21. Stone L., Lurquin P. F., 2009. Geny, kultura i ewolucja człowieka. Wydawnictwo Uniwersytetu Warszawskiego, Warszawa

22. Welon Z., 1962. Genetyczny model dziedziczenia kształtu głowy, Materiały i Prace Antropologiczne 59, 51-61

Knowledge:

The subject learning effect 1 - the student knows and understands advanced genetic phenomena and processes in human populations and their relationships with issues of advanced detailed biological knowledge

The subject learning effect 2 - student is based on empirical foundations in the interpretation of genetic phenomena in human populations and fully understands the importance of mathematical methods and statistical IT tools used in genetics of human populations

Skills:

The subject learning effect 5 - student is able to use advanced techniques and research tools for genetics of human populations, IT and statistical techniques to describe genetic phenomena in human populations and analysis of data in genetics of human populations

The subject learning effect 6 - the student is able to make a critical analysis and selection of information from human population genetics, especially with electronic sources

The subject learning effect 7 - the student is able to formulate and test hypotheses related to research problems in the field of genetics of human populations

The subject learning effect 8 - student is able to use literature in the field of genetics of human populations in English

Social competence:

The subject learning effect 9 - the student is ready to set priorities for the implementation of his or other tasks in the field of genetics of human populations

The subject learning effect 10 - the student is ready to correctly identify and resolve dilemmas related to human populations genetics

ECTS - lectures and tutorials: 5

ECTS- tutorials

Participation in tutorials: 30 hours

Preparation for tutorials: 15 hours

Consultation: 15 hours

Preparation of a report on exercises performed: 30 hours

Total: 90 hours

ECTS: 90/30=3

Assessment criteria:

Knowledge

Grade 2 (fail): the student does not know and does not understand advanced genetic phenomena and processes in human populations and their relationships with issues of advanced detailed biological knowledge; does not rely on empirical foundations in the interpretation of genetic phenomena in human populations and does not understand the importance of mathematical methods and statistical IT tools used in human population genetics

Grade 3 (sufficient): the student knows and understands to a limited extent advanced genetic phenomena and processes in human populations and their relationships with issues of advanced detailed biological knowledge; is based to a limited extent on empirical foundations in the interpretation of genetic phenomena in human populations and to a limited extent understands the importance of mathematical methods and statistical IT tools used in human population genetics

Grade 4 (good): the student well knows and understands advanced genetic phenomena and processes in human populations and their relationships with issues of advanced detailed biological knowledge; is based on empirical foundations in the interpretation of genetic phenomena in human populations and understands well the importance of mathematical methods and statistical IT tools used in human population genetics

Grade 5 (very good): the student knows and understands advanced genetic phenomena and processes in human populations very well and their relationships with issues of advanced detailed biological knowledge; is based on empirical foundations in the interpretation of genetic phenomena in human populations and understands very well the importance of mathematical methods and statistical IT tools used in human population genetics

Skills

Grade 2 (fail): the student is not able to use advanced techniques and research tools of human population genetics as well as information and statistical techniques to describe phenomena and analysis of genetic data; cannot critically analyze and select information, especially from electronic sources; is unable to formulate and test hypotheses related to research problems in the field of human population genetics; cannot use literature on genetics of human populations in English

Grade 3 (sufficient): the student is not able to fully use advanced techniques and research tools of human population genetics as well as IT and statistical techniques to describe phenomena and analysis of genetic data; to a limited extent can perform critical analysis and selection of information, especially from electronic sources; formulate and test hypotheses related to research problems in the field of human population genetics; use literature on human population genetics in English

Grade 4 (good): the student is able well to apply advanced techniques and research tools of human population genetics as well as IT and statistical techniques to describe phenomena and analysis of genetic data; is able well to perform critical analysis and selection of information, especially from electronic sources; formulate and test hypotheses related to research problems in the field of human population genetics; use literature on human population genetics in English

Grade 5 (very good): the student is able very well to apply advanced techniques and research tools of human populations genetics as well as IT and statistical techniques to describe phenomena and analysis of genetic data; is able to perform critical analysis and selection of information very well, especially from electronic sources; formulate and test hypotheses related to research problems in the field of human population genetics very well; use literature on human population genetics in English

Social competence

Grade 2 (fail): the student is not ready to set priorities for carrying out the task defined by himself or others in the field of population genetics of a human; is not ready to correctly identify and resolve dilemmas related to human population genetics

Grade 3 (sufficient): the student is poorly prepared to set priorities for the implementation of the task in the field of human populations genetics defined by himself or others; to a limited extent is ready to correctly identify and resolve dilemmas related to human population genetics

Grade 4 (good): the student is well prepared to prioritize tasks defined by himself or others in the field of human population genetics; is well prepared to correctly identify and resolve dilemmas related to human population genetics

Grade 5 (very good): the student is very well prepared to set priorities for the implementation of the task defined by himself or others in the field of human populations genetics ; is very well prepared to correctly identify and resolve dilemmas related to human populations genetics

Methods:

Tutorials:

Teaching methods:

Problem based practical tasks and group discussions. Students are given sheets specifying problems that they must solve selecting appropriate methods and carrying out calculations. Their results are interpreted and discussed with other students

Assessment methods:

Attendance and activity during practical classes, solutions of practical problems and presentation of written reports of practical activities.

Final grade:

94-100% - 5

93-88% - 4,5

87-80% - 4

79-70% - 3,5

69-60% - 3

mniej niż 59,9% - 2