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Congenital handicaps, genetics - PFYB014

Title:	Vrozené vývojové vady, genetika
Guaranteed by:	Department of Biomedical Foundation in Kinanthropology (51-300200)
Faculty:	Faculty of Physical Education and Sport
Actual:	from 2022
Semester:	summer
Points:	0
E-Credits:	3
Examination process:	summer s.:
Hours per week, examination:	summer s.:1/0, MC [HT]
Extent per academic year:	14 [hours]
Capacity:	unknown / unknown (0)
Min. number of students:	unlimited
4EU+:	no
Virtual mobility / capacity:	no
Key competences:
State of the course:	taught
Language:	Czech
Teaching methods:	full-time
Teaching methods:	full-time
Level:
Is provided by:	PFYB108
Note:	course can be enrolled in outside the study plan enabled for web enrollment priority enrollment if the course is part of the study plan

Guarantor:	doc. MUDr. Eva Kohlíková, CSc.
Classification:	Sport and Physical Education > Biomedicine Subjects

Examination dates SS schedule Noticeboard

Annotation -

Last update: doc. MUDr. Eva Kohlíková, CSc. (21.08.2023)

The introductory lectures deal with the issue of genetics, the description of general laws, characterizing inheritance and variability. The general biological processes discussed in anatomy, biochemistry and physiology are followed by knowledge of molecular genetics, oncogenetics, with regard to ecological influences. The importance of genetic load is documented on examples of genes and traits, hereditary diseases and defects. The course is focused on the acquisition of theoretical knowledge in the field of human anatomy and physiology and their application in the field of genetics.

Aim of the course -

Last update: Mgr. Ivana Kinkorová, Ph.D. (14.11.2023)

The aim of the course is to introduce students to the issue of genetics and the description of general laws characterizing heredity and variability.

Key knowledge and skills:

1/ Terms - gene, trait

2/ Genetic conditioning of defects and diseases and their diagnosis

3/ Genetics at the molecular level

4/ The relationship between genetics and nutrition

5/ The importance of genetics in relation to sport

Course completion requirements -

Last update: doc. MUDr. Eva Kohlíková, CSc. (04.08.2023)

Course completion requirement:
credit test

Literature -

Last update: doc. MUDr. Eva Kohlíková, CSc. (21.08.2023)

KAPRAS, J., KOHOUTOVÁ, M., OTOVÁ, B. Chapters from medical biology and genetics I.. 1st ed. Prague: Karolinum Praha, 1996. 88 pp. ISBN 80-7184-322-9

KOHOUTOVÁ, M. et al.: Medical biology and genetics (Part II), Karolinum, Prague, 2012. ISBN 978-80-246-1873-9

NECÁSEK, J. Genetics. 1st ed. Prague: Scientia, s.r.o. Prague, 1993, 112 pp. ISBN 80-85827-04-2

OTOVÁ, B. et al.: Medical biology and genetics (Part I), Karolinum, Prague, 2008. EAN 9788024615943

PRITCHARD, D.J., KORF, B.R.. Fundamentals of Medical Genetics. Prague: Galén, 2007. EAN: 9788072624492

RELICHOVÁ, J.: Genetics of populations. MU Brno, 2015. ISBN: 978-80-210-7736-2

SIMMONS, M., J., SNUSTAD, D.P.: Genetics. MU Brno, 2017. ISBN: 978-80-210-8613-5

SOUKUPOVÁ, M., SOUKUP, F. Chapters from medical biology and genetics II. 1st ed. Prague: Karolinum Praha, 1998. 98 pp. ISBN 80-7184-581-7

SRŠEŇ, Š. Basics of clinical genetics. 2nd ed. Martin: Osveta 1995. 259 pp. ISBN 80?217?0477?2

SRŠEN, S., SRŠŇOVÁ, K. Genetically conditioned pathological conditions. 1st ed. Martin: Osveta. 1992. 146 pp. ISBN 80?223?0460?3

THOMPSON, J., THOMPSON, M.G. et al.: Clinical Genetics: Thompson & Thompson. 6th edition. Prague: Triton, 2004. ISBN: 80-7254-475-6

Requirements to the exam -

Last update: doc. MUDr. Eva Kohlíková, CSc. (04.08.2023)

Exam requirement:
Classified test

Syllabus -

Last update: doc. MUDr. Eva Kohlíková, CSc. (04.08.2023)

1. - 2. Basics of molecular genetics, types of genetic transfer, gene mutations. Polymorphism - new genetic insights
3. - 4. Clinical cytogenetics, extranuclear inheritance, population genetics, degree of genetic conditioning of quantitative and qualitative traits in humans.

5. Prenatal, natal and postnatal diagnostics of genetically determined conditions and diseases. Hereditary conditioned metabolic disorders.
6. Congenital chromosomal aberration syndromes linked to conception, change of I chromosomes.
7. Congenital chromosomal aberration syndromes linked to conception, change of II chromosomes.