BLKG051p Clinical Genetics - lecture

Faculty of Medicine
Autumn 2008
Extent and Intensity
0/0. 3 credit(s). Type of Completion: z (credit).
Teacher(s)
Mgr. Alexandra Bittnerová (lecturer)
Mgr. Hana Filková (lecturer)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
RNDr. Jitka Kadlecová, Ph.D. (lecturer)
MVDr. Vlasta Linková (lecturer)
Mgr. Marta Navaříková (lecturer)
RNDr. Alexandra Oltová (lecturer)
MUDr. Šárka Prášilová (lecturer)
MUDr. Jana Šoukalová (lecturer)
RNDr. Iveta Valášková, Ph.D. (lecturer)
prof. MUDr. Dalibor Valík, Ph.D., DABCC (lecturer)
Michaela Gregorovičová (assistant)
Guaranteed by
MUDr. Renata Gaillyová, Ph.D.
Department of Laboratory Methods – Departments of Non-medical Branches – Faculty of Medicine
Contact Person: MUDr. Renata Gaillyová, Ph.D.
Timetable
Mon 22. 9. 15:00–17:30 KOM 257
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
This subject offers basic knowledge about clinical genetics, about main genetic features of signs and diseases and introduces genetic medical applications. Students obtain basic overview in clinical cytogenetis methods and mulecular cytogenetics, DNA-diagnostic methods of inherited diseases and possibilities of genetic consultancy.
Syllabus
  • Theory - general and special
  • Introduction to genetics, general genetics, history
  • primary and secondary genetic prevention, genetic examination, typical patients in need of genetic consultation, mendel heredity
  • gene structure, genetic code, gene defects, types of mutations, gene linkage, gene maps, characters association
  • RNA diagnostics, molecular genetics and therapy
  • direct and indirect DNA diagnostics, informativity of families, prenatal molecular diagnostics
  • monogenic diseases
  • postnatal cytogenetics
  • prenatal cytogenetics
  • oncocytogenetics
  • inherited autosomal aberations
  • inherited gonosomal aberations
  • prenatal diagnostics, reproductive genetics
  • sydromology, symptomatology, polygenic and multifactorial heredity, inherited developmental defects
  • inherited metabolic defects
  • Clinical genetics - consultancy, prognostics, presymtomatic testing, genetic consultancy in oncology, ethics, law
  • Theory - methodology
  • basics of laboratory technics at cytogenetic laboratory, biological material for cytogenetic examination
  • basics of molecular cytogenetic methods
  • processing of cytogenetic specimens for prenatal, postnatal and oncological cytogenetic diagnostics
  • processing of cytogenetic specimens for molecular cytogenetic examinations
  • long-term cultivation in cytogenetics
  • Methods CGH, SKY, FISH, M-FISH
  • basics of laboratory technics in DNA diagnostics
  • basic methods performed in DNA laboratory
  • Right laboratory practice, system of internal and external quality control
  • DNA-banking, registers of patients at the department of medical genetics
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
  • KOČÁREK, Eduard. Genetika : obecná genetika a cytogenetika, molekulární biologie, biotechnologie, genomika. 1. vyd. Praha: Scientia, 2004, 211 s. ISBN 8071833266. info
  • JONES, Steve. Genetika. Translated by Martin Kalous, Illustrated by Borin van Loon. Vyd. 1. Praha: Portál, 2003, 184 s. ISBN 80-7178-708-6. info
  • RELICHOVÁ, Jiřina. Genetika populací. Brno: MU v Brně, 2001, 175 pp. ISBN 80-210-1542-X. 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
Assessment methods
credit
Language of instruction
Czech
The course is also listed under the following terms Autumn 2007.
  • Enrolment Statistics (recent)
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