Courses list

Wersja polska

Course code: BBS20221o14
Semester: 2014/2015 summer
Name: Human Genetics
Major: Biology
Study Type: second cycle
Course type: compulsory
Study Semester: 2
ECTS points: 4
Hours (Lectures / Tutorials / Other): 15 / 15 / 0
Lecturer: dr Bożena Kruk-Marszałek
Language of instruction: Polish


Learning outcomes: Knowledge: Student: W1 - knows the structure of the human genome, has a general knowledge of the techniques of detecting mutations causing genetic diseases [KB2_W01; KB2_W04_BC]. W2 - is aware of various human genetic diseases [KB2_W01_BC]. W3 - is able to classify gene mutations and chromosomal abnormalities [KB2_W03_BC] W4 - knows the aims of genetic counseling and gene therapy [KB2_W04; KB2_W04_BC]. Skils: Student: U1 - is able to genomic isolate DNA, DNA amplification with polymerase chain reaction (PCR), electrophoresis on agarose gel [KB2_U01]; U2 - is able to use laboratory methods like: single strand conformation polymorphism (SSCP), restriction analysis and preparing the probes for sequencing method [KB2_U01; KB2_U02]. U3 - is trained to use the methods of statistical analysis and computer programs, which are applicable to analyze the genotyping results and to determine the difference in allele frequencies between the analyzed groups [KB2_U03; KB2_U02_BC]. U4 - is able to find important information on the websites of the molecular base of genetic diseases and will be able to interpret this kind of information. [KB2_U04]. U5 – can conduct genetic diagnostic at elementary level and works in diagnostic laboratory and conducting genetic research as well as in units involved in processing data of biological origin [KB2_U04_BC]

Competences: Personal and social competences (attitudes and behaviors) Student: K1 - knows the rules for safe working in a genetics laboratory [KB2_K07]. K2 - is aware of responsibility for the entrusted laboratory equipment, he or she takes part of common research team work [KB2_K02; KB2_K03].

Prerequisites: basic of genetics, molecular biology and biochemistry

Course content: Human genome, genetic mutations and chromosome aberrations, classification of human genetic diseases, genetic counseling, mutation detection methods, gene therapy, human dysmorphology

Recommended literature: 1. Drewa G., Ferenc T. Genetyka medyczna. Elsevier Urban & Partner, Wrocław 2011; 2. Korf BR. Genetyka człowieka. Wyd. Naukowe PWN, Warszawa 2003; 3. Passarge E.: Genetyka. Wyd. Lekarskie PZWL 2004; 4. Węgleński P. Genetyka molekularna. Wyd. Naukowe PWN, Warszawa 2006; 5. Bal J. Biologia molekularna w medycynie. Wyd. Naukowe PWN, Warszawa 2007; 6. Epstein RJ. Biologia molekularna człowieka. Wydawnictwo Czelej 2005.

Assessment methods: check knowledge before each exercise, completion of laboratory training after semester, test. Final grade will be sum of 50% exam and 50% practical training result.

Comment: specialization: Human Biology