ECTS
ECTS Course Catalogue
Course details
Course code: BIS10055f17Semester: 2017/2018 summer
Name: Human genetics
Major: Bioinformatics
Study Type: first cycle
Course type: optional
Study Semester: 6
ECTS points: 2
Hours (Lectures / Tutorials / Other): 0 / 15 / 15
Lecturer: dr Bożena Marszałek-Kruk
Language of instruction: Polish
1. The course exclusively in Polish, with a possibility of support in English
Learning outcomes: Knowledge: After the course the student knows the structure of the human genome, has a general knowledge of the techniques of detecting mutations causing genetic diseases [BI_W07; BI_W08; BI_W16]. Is aware of various human genetic diseases [BI_W06; BI_W11]. The student is able to classify gene mutations and chromosomal abnormalities [BI_W06]. He or she knows the aims of genetic counseling and gene therapy [BI_W04]. Skils: Student obtains skills: genomic DNA isolation, DNA amplification with polymerase chain reaction (PCR), electrophoresis on agarose gel [BI_U02]. Student is able to use laboratory methods like: single strand conformation polymorphism (SSCP), restriction analysis and preparing the probes for sequencing method [BI_U02]. During the course the student 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 [BI_U07]. After the course the student will be 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. Passing the course permits working in diagnostic laboratory and conducting genetic research as well as in units involved in processing data of biological origin [ BI_U09; BI_U13]. During the course a theoretical knowledge and practical skills are gained permitting student to conduct genetic diagnostic at elementary level [BI_U06]. Personal and social competences (attitudes and behaviors) The student knows the rules for safe working in a genetics laboratory [BI_K07] Student is aware of responsibility for the entrusted laboratory equipment, he or she takes part of common research team work.[ BI_K02]
Competences:
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:
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