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Lecturer(s)
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Procházka Martin, prof. MUDr. Ph.D.
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Strašil Radek, MUDr.
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Course content
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Congenital abnormalities, their etiology and categorization. Types of inheritance, commonest diseases inherited in autosomal dominant, recessive and X-linked manner. Multifactorial diseases - diabetes mellitus, dyslipidaemia, hypertension, psychiatric diseases. Clinical cytogenetics, basis of DNA analysis, use of DNA methodology in clinical context. Genetic aspects of the development of embryo. Teratogenic factors in pregnancy. Non-invasive methods of prenatal diagnosis - ultrasound. Invasive methods of prenatal diagnosis - amniocentesis, cordocentesis, fetoscopy. Genetic counseling. Ethical problems of medical genetics.
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Learning activities and teaching methods
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Lecture, Monologic Lecture(Interpretation, Training), Dialogic Lecture (Discussion, Dialog, Brainstorming), Observation
- Homework for Teaching
- 20 hours per semester
- Attendace
- 10 hours per semester
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Learning outcomes
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Following a completion of the course the student should know the main patterns of inheritance, principles of genetic consulting, basic methods of investigation in genetics, genetic causes of sterility and infertility and methods of prenatal diagnosis including screening of birth defects and chromosomal abnormalities.
To use the acquired knowledge while caring for patients with reproductive disabilities and antenatal patients.
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Prerequisites
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Basic knowledge of biology and physiology.
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Assessment methods and criteria
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Student performance
Active attendance at seminars and lectures.
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Recommended literature
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Hájek, Z., Kulovaný, E., Macek, M. (2000). Základy prenatální diagnostiky. Praha: Grada Publishing.
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Kočárek, E. (2007). Molekulární biologie v medicíně.
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Procházka, M. a kol. Základy lékařské genetiky pro studenty všeobecného lékařství.
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Sršeň, Š., Sršňová, K. (2000). Základy klinickej genetiky a jej molekulárna podstata. Osveta, Martin.
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