Bi7250 Human genetics

Faculty of Science
spring 2012 - acreditation

The information about the term spring 2012 - acreditation is not made public

Extent and Intensity
2/0/0. 2 credit(s) (fasci plus compl plus > 4). Type of Completion: zk (examination).
Teacher(s)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
RNDr. Iveta Valášková, Ph.D. (lecturer)
RNDr. Vladimíra Vallová, Ph.D. (lecturer)
Guaranteed by
doc. RNDr. Petr Kuglík, CSc.
Department of Experimental Biology – Biology Section – Faculty of Science
Contact Person: doc. RNDr. Petr Kuglík, CSc.
Supplier department: Department of Experimental Biology – Biology Section – Faculty of Science
Prerequisites (in Czech)
( Ex_3162 Obecná genetika || Imp_9126 Obecná genetika || B1900 Basic genetics || BMB32 Basic genetics || B6730 Basic genetics || B8470 Genetics || B3060 Basic genetics || Bi3060 Basic genetics ) && ( Ex_3065 Molekulární biologie || Imp_9115 Molekulární biologie || B3120 Molecular and cell biology || B4030 Molecular biology || B5740 Molecular biology || B6130 Molecular biology || B7940 Molecular biology || B4020 Molecular biology || Bi4020 Molecular biology ) && ( Ex_2315 Cytogenetika || BMB41 Cytogenetics || B6270 Cytogenetics || Bi6270 Cytogenetics || NOW( Bi6270 Cytogenetics )) && ! B7250 Human 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
At the end of course students should be able: to understand the principles of medical genetics, to describe and explain the technology and applications of clinical genetics, cytogenetics and molecular genetics in clinical medicine. .
Syllabus
  • Clinical Cytogenetics, Abnormal Chromosome Constitutions in Humans (numerically and structurally, inborn and equired), Frequency in Human Population and Spontaneous Abortions, Indications for Karyotyping, Prenatal Diagnosis, Invazive and Noninvazive Methods and Indications for Fetal Karyotyping, Detection of Fetal Cells in Maternal Blood, Preimplantation Diagnosis. Molecular clinic genetics: Human genome, human disease genes, mutation and polymorphisms of human DNA, molecular biology methods in diagnostics of pathologic genes (isolation of DNA and RNA, restriction analyses, DNA hybridization assays, PCR - based DNA analyses, electrophoretic methods, screening of mutations, single strand conformation polymorphism), Prenatal and postnatal DNA based diagnosis of common single gene defects (Cystic fibrosis, Huntington disease, Fragile X syndrome, Duchenne muscular dystrophy, Hemophilia A), cardiac defects, personal identification (paternity, forensics). Clinical Genetics, Genetic Deseases, Clinical features, Prenatal and Postnatal Diagnosis of Inborn Chromosomal Aberrations and Genetic Consulting, Prognosis, Ethics in Clinical Genetics.
Literature
  • SNUSTAD, D. Peter, Michael J. SIMMONS, Jiřina RELICHOVÁ, Jiří DOŠKAŘ, Jiří FAJKUS, Petr HOŘÍN, Aleš KNOLL, Petr KUGLÍK, Jan ŠMARDA, Jana ŠMARDOVÁ, Renata VESELSKÁ and Boris VYSKOT. Genetika (Principles of Genetics). 1st ed. Brno: Masarykova univerzita, 2009, 894 pp. Učebnice. ISBN 978-80-210-4852-2. URL info
  • NUSSBAUM, Robert L., Roderick R. MCINNES, Huntington F. WILLARD, James THOMPSON and Margaret Wilson THOMPSON. Klinická genetika : Thompson & Thompson. Translated by Petr Goetz. Vyd. 1. Praha: Triton, 2004, 426, lix. ISBN 8072544756. info
  • HATINA, Jiří and Brian D. SYKES. Lékařská genetika : problémy a přístupy. Vyd. 1. Praha: Academia, 1999, 296 s. ISBN 8020007008. info
Teaching methods
lectures
Assessment methods
oral exam
Language of instruction
Czech
Follow-Up Courses
Further Comments
The course is taught annually.
The course is taught: every week.
Listed among pre-requisites of other courses
Teacher's information
http://orion.sci.muni.cz/kgmb/student/7250/Sylabus2004.htm
The course is also listed under the following terms Spring 2008 - for the purpose of the accreditation, Spring 2011 - only for the accreditation, Autumn 2002, Spring 2004, Spring 2005, Spring 2006, Spring 2007, Spring 2008, Spring 2009, Spring 2010, Spring 2011, Spring 2012, Spring 2013, Spring 2014, Spring 2015, Spring 2016, Spring 2017, spring 2018, Spring 2019, Spring 2020, Spring 2021, Spring 2022, Spring 2023, Spring 2024, Spring 2025.