Daten
Offizielle Daten in der Fachveröffentlichung für das folgende akademische Jahr: 2022-2023
Lehrbeauftragte/r
-
Dr. Kinga HADZSIEV
assistant professor,
Department of Medical Genetics -
Semesterwochenstunden
Vorlesungen: 14
Praktika: 0
Seminare: 0
Insgesamt: 14
Fachangaben
- Kode des Kurses: OAA-HUG-T
- 1 kredit
- General Medicine
- Basic modul
- autumn
OAA-MB2-T completed
Vizsgakurzus:ja
Zahl der Kursteilnehmer für den Kurs:
min. 1 – max. 200
Erreichbar als Campus-Kurs für . Campus-karok: ÁOK
Thematik
The goal of this course is to delineate the structure and variations of the human genome, to foster the formation of an approach that will aid the acquirement of preclinical and later clinical subjects with the possession of a molecular knowledge. The further goal is to discuss the molecular basics associated with human heredity and to introduce diagnostic methods relevant to the understanding of heritable disorders.
Vorlesungen
- 1. Introduction: history of genetics, the Human Genome Project, the postgenom era, ENCODE project - Dr. Hadzsiev Kinga
- 2. Construction of pedigree, basics of mendelian inheritance, characteristics of mendelian and non-mendelian inheritance I - Dr. Till Ágnes
- 3. Construction of pedigree, basics of mendelian inheritance, characteristics of mendelian and non-mendelian inheritance II - Dr. Hadzsiev Kinga
- 4. Organization of the human genome I. From the nuclear and mitochondrial genome to organization of the chromosomes - Dr. Szabó András
- 5. Organization of the human genome II: Special elements of the human genome: organization and function of coding and non-coding regions; LINE, SINE, Alu sequence elements, SNP, CNV. - Burján Tiborné Dr. Maász Anita
- 6. Organization of the human genome III: Basics of cytogenetics, FISH, CGH, array techniques - Dr. Hadzsiev Kinga
- 7. Examination methods I. Hybridization methods (blot, PCR and modifications, RFLP, Sanger, NGS, MLPA) - Dr. Berenténé Dr. Bene Judit Ágnes
- 8. Examination methods II. Biochemical diagnostics, enzyme diagnostics, determination of metabolites - Dr. Berenténé Dr. Bene Judit Ágnes
- 9. Examination methods III: Cytogenetic diagnostics - Dr. Czakó Márta
- 10. Basics of pharmacogenetics, concept of personalised medicine - Dr. Szalai Renáta
- 11. Mutations, SNPs, haplotypes, genetic drift - Burján Tiborné Dr. Maász Anita
- 12. Linkage, genetic mapping, Hardy-Weinberg rule, GWAS - Burján Tiborné Dr. Maász Anita
- 13. Epigenetics, imprinting - Dr. Hadzsiev Kinga
- 14. Studying gene function, proteomics, bioinformatics - Dr. Berenténé Dr. Bene Judit Ágnes
Praktika
Seminare
Materialien zum Aneignen des Lehrstoffes
Obligatorische Literatur
Vom Institut veröffentlichter Lehrstoff
POTEPEDIA, Teams, Neptun Meet Street
Skript
Empfohlene Literatur
The basis is the topics of the lectures.
Further readings:
Tom Strachan and Andrew P. Read: Human Molecular Genetics (5th Edition)
Voraussetzung zum Absolvieren des Semesters
Maximum of 15 % absence allowed
Semesteranforderungen
none
Möglichkeiten zur Nachholung der Fehlzeiten
none
Prüfungsfragen
Neptun Meet Street system.
Prüfer
- Burján Tiborné Dr. Maász Anita
- Dr. Berenténé Dr. Bene Judit Ágnes
- Dr. Czakó Márta
- Dr. Hadzsiev Kinga
- Dr. Magyari Lili
- Dr. Melegh Béla
- Dr. Szabó András
- Dr. Szalai Renáta
- Dr. Till Ágnes