Lecture Topics: 1. week: The conception of the field (primary and secondary prevention of inborn development defects (congenital defects), medical genetics workplace, consultancy and laboratory activites, statistics of congenital defects) 2. week: The essence of inheritability: genetic information, DNA, RNA, structural and regulatory genes, replication, transcription and translation, genetic code, mutation 3. week: Classic types of inheritability (genotype, phenotype, homozygous and heterozygous state of alleles, dominance and recessivity, autosomal and gonosomal transfer of genetic information), uniparental disomia 4. week: Polygenic inheritability (involvement of factors of the environment on the creation of congenital defects, fluent variability of attributes of a quantitative character, family relationships, empiric risks, risks of homogamy), mitochondrial inheritability 5. week: Chromosomes, chromosomal aberration (autosomia, gonosomia, polysomia, aneuploidia, deletion, duplication, inversion and translocation, mosaic, most common chromosomal congenital defects), examination of a caryotype 6. week: Examination methods medical genetics (genealogy, dif.diagnostics of fenotypes, prenatal diagnostics, molecular genetic al examination), sampling of material for genetic al examination 7. week: Most common genetically conditioned illness (syndrome congenital chromosomal and non-chromosomal defects, congenital defects in organ systems, predictive genetic al diagnostics) 8. week: Prenatal examination (embryogenesis, invasive and non-invasive prenatal examination, AMC, CVS, cordocentesis, screening examination, ultrasound, MR of a foetus) 9. week: Perspectives of medical genetics (DNA diagnostics, cooperation with other fields, assisted reproduction, gene therapy)
|
The subject is theoretical; it provides the students with the knowledge of transmission of genetic information, the types of inheritability, appearance and prevention of inborn development disorders, prenatal diagnostics, and methods of assisted reproduction. The part of the subject is presented in basic groups of genetic disorders, methods of genetic screening and evaluation of genetic risks including genetic consulting.
Subject Knowledge: Students have the knowledge of genetic information transmission, types of inheritability, human caryotype, the methods of assisted reproduction, prenatal diagnostics, the types and prevention of inborn development defects. Students are able to describe basic genetic diseases. Professional skills: Students are able to draw a basic family tree scheme, calculate the risk of repetition in case of basic types of inheritability (recessive, dominant, sexually bind), understand the way of recording the caryotype, sampling of the material for genetic examination, know principle, possibilities and indications of prenatal diagnostics
|
-
Dorian J., et al. Základy lékařské genetiky.. Praha: Galén, 2007. ISBN 978-80-7262-449-2.
-
HÁJEK, Z. a kol. Základy prenatální diagnostiky. Praha: Grada, 2000. 423 s. ISBN 80-7169-391-X. Praha, 2000. ISBN 80-7169-391-X.
-
KOHOUTOVÁ, Milada, et al. Lékařská biologie a genetika II. díl. 1. vydání. Praha: Karolinum, 2012. 202 s. ISBN 978-80-246-1873-9..
-
OTOVÁ, Berta, et al. Lékařská biologie a genetika I. díl. 1. vydání. Praha: Karolinum, 2008. 123 s. ISBN 978-80-246-1594-3..
-
SRŠEŇ, Š., SRŠŇOVÁ K. Základy klinickej genetiky a jej molekulárna podstata. Martin: Osveta, 1999..
-
THOMPSON, J. THOMPSON, M. NUSSBAUM, R, et al. Klinická genetika: Thompson & Thompson. Praha: Triton, 2004. ISBN 80-7254-475-6.
|