PřF:Bi7250 Human genetics - Course Information
Bi7250 Human genetics
Faculty of ScienceSpring 2009
- Extent and Intensity
- 2/0/0. 2 credit(s) (fasci plus compl plus > 4). Type of Completion: zk (examination).
- Teacher(s)
- RNDr. Alexandra Oltová (lecturer), doc. RNDr. Petr Kuglík, CSc. (deputy)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
RNDr. Jitka Kadlecová, 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. - Timetable
- Thu 15:00–16:50 KDIN N01062
- 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
- Anthropology (programme PřF, B-BC)
- Anthropology (programme PřF, M-BI)
- Anthropology (programme PřF, N-BC)
- Biophysics (programme PřF, M-FY)
- Cellular and Molecular Diagnostics (programme PřF, B-BI)
- Molecular Biology and Genetics (programme PřF, M-BI)
- Molecular Biology and Genetics (programme PřF, N-BI)
- Course objectives
- The aim of this course is to explain the technology and applications of clinical genetics, cytogenetics and molecular genetics in clinical medicine. The main objectives of the course are the following: 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.
- 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
- 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
- Assessment methods
- written tests
- Language of instruction
- Czech
- Follow-Up Courses
- Further Comments
- Study Materials
The course is taught annually. - Listed among pre-requisites of other courses
- Bi7250c Medical genetics and genetical consulting - practice
Bi0422 && Bi0311 && (NOW(Bi7250) || Bi7250) - Bi7290 Human Genetics and Genomics Seminar
Bi7250 || NOW(Bi7250) - Bi9325 Human Molecular Genetics
(B7250 || Bi7250) && (Bi6401 || Bi3002 || Bi6491 || Bi6005 || Bi6006 || Bi6007 || Bi6122 || souhlas)
- Bi7250c Medical genetics and genetical consulting - practice
- Teacher's information
- http://orion.sci.muni.cz/kgmb/student/7250/Sylabus2004.htm
- Enrolment Statistics (Spring 2009, recent)
- Permalink: https://is.muni.cz/course/sci/spring2009/Bi7250