BLKG051x Clinical Genetics - practice

Faculty of Medicine
Autumn 2013
Extent and Intensity
0/0. 5 credit(s). Type of Completion: z (credit).
Teacher(s)
doc. MUDr. Milan Dastych, CSc., MBA (lecturer)
MUDr. Renata Gaillyová, Ph.D. (lecturer), Mgr. Marta Navaříková (deputy)
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
Supplier department: Department of Laboratory Methods – Departments of Non-medical Branches – Faculty of Medicine
Timetable
Fri 8:00–14:00 N05079
Prerequisites (in Czech)
BLKG0311 Clinical Genetics
Course Enrolment Limitations
The course is only offered to the students of the study fields 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.; The aim of the course is to acquaint students with the operation in genetic laboratories, laboratory equipment and instrumentation procedures. Part of the course is visiting to the genetic clinic and get basic knowledge about genetic testing procedures.
Syllabus
  • Methods of classical cytogenetics - Making preparations for the analysis of congenital and acquired chromosomal aberrations up. Making preparations for the analysis of chromosomal aberrations in cancer patiens up. Evaluation of chromosomal preparations under the light microscope and by computer image analysis. Methods of Molecular Cytogenetics - Method of fluorescence in situ hybridization, evaluation of preparations in the fluorescent microscope. Showing results of metaphases and interphase FISH. Methods CGH, SKY. Methods of Molecular Genetics - Taking of peripheral blood, DNA isolation methods, quality control DNA, RNA isolation. PCR amplification method. Detection of PCR products, electrophoresis in polyacrylamide gel. Methods of detection of mutations in clinical genetics (DGGE, SSCP, Real time PCR, fragmentation analysis, sequencing) Examination of patients in the genetic clinic
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
Teaching methods
trainee - ship
Assessment methods
confirmation of completion of practice
Language of instruction
Czech
Further comments (probably available only in Czech)
Study Materials
Information on the extent and intensity of the course: 48 za semestr.
The course is also listed under the following terms Autumn 2007, Autumn 2008, Spring 2009, Autumn 2009, Spring 2010, Autumn 2010, Spring 2011, Autumn 2011, Autumn 2012, 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 2013, recent)
  • Permalink: https://is.muni.cz/course/med/autumn2013/BLKG051x