Human genetics WB-BI-42-15cw
- https://teams.microsoft.com/l/channel/19%3ab2d5f084c2d24b03be2bb4de8466ba96%40thread.tacv2/Og%25C3%25B3lny?groupId=7eea90a6-5115-476a-8cfa-7fbfbcf2a2dd&tenantId=12578430-c51b-4816-8163-c7281035b9b3 (term 2020/21_L)
A course of “Human genetics” includes topics on the history of the most important discoveries for the development of knowledge on inheritance in men. The types of messengers of human genetic information, with respecting of DNA and RNA structures. The processes related to gene expression are also discussed (transcription, types and structures of transcription factors, splicing, translation), as well as factors involved in regulation of gene expression.
The structure of human genome is reviewed. Some lectures are focused on mutations (types of mutations, mutagenic factors, repairing processes) and polymorphisms. Methods used for the assessment of mutation pathogenicity including those based on the use of genetic and proteomic databases, are discussed. Genetic diseases, including: monogenic diseases, polygenic diseases, multifactorial disorders, as well as the types of inheritance, are presented.
The course includes also the topics on gender determination as well as types of disease inheritance. Pleiotropy, redundance, genetic and allelic heterogeneity are reviewed.
Issues related to strategies used to identify genetic variants related to inheritant diseases (strategies from protein to gene, from gene to protein, genetic markers - candidates, analysis of markers overlapping the whole genome (GWAS; Genome – Wide Association Study); project HapMap]), are also included in the course of lectures.
Separate talks are focused on the topics of genetic screening (investigation of carriership, analysis of predisposition, genetic conselling).
The problems of tumour genetics, as well as relevance of genetics in judiciary, are presented.
At the end of the course the new discipline of genetic science is presented, i.e. epigenetics. The most important discoveries in this area are presented, including the role of epigenetic processes in chromosome X inactivation and paternal gene imprinting, as well as the involvement of epigenetic phenomena in tumorigenesis.
(in Polish) E-Learning
(in Polish) E-Learning
(in Polish) E-Learning z podziałem na grupy
(in Polish) Grupa przedmiotów ogólnouczenianych
Learning outcome code/codes
BI2_W04 - has in-depth knowledge of the most important problems in various branches of biology and knows their connections with other disciplines
BI2_U04 - performs commissioned research tasks or expertise under the guidance of a scientific supervisor
BI2_U07 - demonstrates the ability to formulate reasoned judgments based on data from various sources
BI2_K01 - understands the need for lifelong learning, can inspire and organize the learning process of others
BI2_K05 - understands the need for systematic familiarization with scientific and popular science magazines, basic for biology
Written test - verification of learning outcomes through partially single-choice written test, open questions constituting part of the test.
The final grade depends on the points from the test; to get credit for 3 (sufficient) - min. 60% is required, for 4 (good) - min. 75%, out of 5 (very good) - min. 90%.
Class attendance - two absences are admitted per semester, in special cases (hospital, special random accidents) three absences can be accepted. Three absences - reduction of grade by 0.5, more absences - incomplete, failed classes.
Genetyka. Krótkie wykłady; H.L. Fletcher, G.I. Hickey, P.C. Winter; Wydawnictwo Naukowe PWN, 2011
Genetyka medyczna; Lech Korniszewski’; Wydawnictwo: PZWL
Drewa G., Ferenc T. Genetyka medyczna, Elsevier Urbar & Partner, Wrocław 2011
Bal J., Biologia molekularna w medycynie, wydanie II, Wydawnictwo Naukowe PWN SA, Warszawa 2006, s. 55-61, 142-161, 216-235 261-286, 443-467
Genetyka molekularna; red. Piotr Węgleński; Wydawnictwo Naukowe PWN, 2012 (copyright 2006)
Genetyka medyczna; Connor, Ferguson, Tobias Edward; Wydawnictwo: pzwl; 2013
Information on level of this course, year of study and semester when the course unit is delivered, types and amount of class hours - can be found in course structure diagrams of apropriate study programmes. This course is related to the following study programmes:
Additional information (registration calendar, class conductors, localization and schedules of classes), might be available in the USOSweb system: