BLKG0311 Clinical Genetics

Faculty of Medicine
Autumn 2013
Extent and Intensity
2/0/0. 4 credit(s). Type of Completion: zk (examination).
Teacher(s)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
Mgr. Marta Navaříková (assistant)
Ing. Lucia Ráheľová (assistant)
Guaranteed by
MUDr. Renata Gaillyová, Ph.D.
Department of Laboratory Methods – Departments of Non-medical Branches – Faculty of Medicine
Supplier department: Department of Laboratory Methods – Departments of Non-medical Branches – Faculty of Medicine
Timetable
Wed 16:00–17:40 N01082/015
Prerequisites (in Czech)
BLMB011p Mol.andCell.Biol.-lect.
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, gen 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 Good 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
  • 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
Teaching methods
two-hour lecture per week
Assessment methods
examination
Language of instruction
Czech
Further Comments
Study Materials
Listed among pre-requisites of other courses
The course is also listed under the following terms Autumn 2006, Autumn 2007, Autumn 2008, Autumn 2009, Autumn 2010, 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/BLKG0311