BLKG051x Clinical Genetics - practice

Faculty of Medicine
Autumn 2008
Extent and Intensity
0/0. 3 credit(s). Type of Completion: z (credit).
Teacher(s)
doc. MUDr. Milan Dastych, CSc., MBA (lecturer)
Michaela Gregorovičová (assistant)
Guaranteed by
doc. MUDr. Milan Dastych, CSc., MBA
Department of Laboratory Methods – Departments of Non-medical Branches – Faculty of Medicine
Contact Person: Michaela Gregorovičová
Timetable
Mon 8:00–14:00 N05079, Tue 8:00–14:00 N05079, Wed 8:00–14:00 N05079, Thu 8:00–14:00 N05079
Prerequisites (in Czech)
BLKG0311 Clinical Genetics
Course Enrolment Limitations
The course is also offered to the students of the fields other than those the course is directly associated with.
fields of study / plans the course is directly associated with
Course objectives
Specialist practice complements the practical part of education in Clinical Biochemistry, Clinical Hematology, Immunohematology and Transfusion medicine, Clinical Microbiology, Clinical Immunology, Clinical Genetics and Pathologic Anatomy – Histopathologic determination methods. Students become familiar with the organization of workflow processes and basic documentation of laboratory worksites and will perform select tasks and activities.
Syllabus
  • Peripheral blood taking for human cell cultivation, storage of symplex; Setting up of cell culture for assessment of congenital chromosomal aberrations; Setting up of cell culture for assessment of acquired chromosomal aberrations; Cell culture processing; Preparation of metaphase chromosomes for analysis of congenital and acquired chromosomal aberrations; Microscope and computer image analyses of metaphase chromosome; Result example s of interphase and metaphase Fluorescence in situ Hybridization (FISH); Examples of Spectral Karyotyping (SKY); Prenatal cytogenetic diagnostics – specificity; Peripheral blood taking for DNA analysis, DNA isolation methods; DNA quality control and determination of DNA concentration; RNA isolation; DNA amplification using PCR Metod; Detection of PCR products (agarose and polyacrylamide electrophoresis); Molecular genetic methods for detection of mutations in medical genetics (Denaturing Gradient Gel Electrophoresis - DGGE, Single-Strand Conformation Polymorphism - SSCP, Real-Time PCR, fragment analysis, sequencing) ;
Literature
  • FLODROVÁ, Eva, Alexandra ŽOURKOVÁ, Jan JUŘICA, Tomáš KAŠPÁREK and Renata GAILLYOVÁ. Molecular genetic analysis of CYP2D6 gene and used methods. In European Human Genetic Conference. 2008. URL URL info
  • FLODROVÁ, Eva, Alexandra ŽOURKOVÁ, Jan JUŘICA and Renata GAILLYOVÁ. Molecular genetic identification of the major CYP2D6 alleles and utilization in psychiatric treatment. In 26th Collegium Internationale Neuro-Psychopharmacologicum Congress (CINP). 2008. ISSN 1461-1457. info
  • VOJTÍŠKOVÁ, Marie, J. KADLECOVÁ, T. NOVOTNÝ, Renata GAILLYOVÁ, Hana KONEČNÁ, Jana KLÁNOVÁ and B. SEMRÁD. Molekulární diagnostika pacientů se syndromem prodlouženého QT intervalu (Molecular Diagnostics of Pacients with Long QT Syndromes). In Biochemie a molekulární biologie na prahu nového tisíciletí. 2000th ed. Brno: Masarykova univerzita, 2000, p. 83-84. ISBN 80-210-2266-3. info
  • JIČÍNSKÁ, H., J. MAREK, Věra BRYŠOVÁ, Renata GAILLYOVÁ, Jiří LITZMAN, Petr KUGLÍK and Jiří NAVRÁTIL. Delece 22q11 chromozomu u vrozených srdečních vad (VSV) (Chromosome 22q11 deletion in congenital heart defects )CHD)). Česko-slovenská pediatrie. Praha: ČLS, 1998, vol. 53, suppl. 1, p. 67. ISSN 0069-2328. info
Assessment methods
credit
Language of instruction
Czech
The course is also listed under the following terms Autumn 2007, Spring 2009, Autumn 2009, Spring 2010, Autumn 2010, Spring 2011, Autumn 2011, Autumn 2012, Autumn 2013, Autumn 2014, Autumn 2015, Autumn 2016, Autumn 2017, autumn 2018, autumn 2019, autumn 2020, autumn 2021, autumn 2022, autumn 2023, autumn 2024.
  • Enrolment Statistics (Autumn 2008, recent)
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