Data
Official data in SubjectManager for the following academic year: 2022-2023
Course director
-
Dr. Kinga HADZSIEV
assistant professor,
Department of Medical Genetics -
Number of hours/semester
lectures: 14 hours
practices: 0 hours
seminars: 0 hours
total of: 14 hours
Subject data
- Code of subject: OSE-HUG-T
- 1 kredit
- Dentistry
- Elective modul
- autumn
OSA-MF2-T completed
Course headcount limitations
min. 1 – max. 200
Available as Campus course for . Campus-karok: ÁOK
Topic
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.
Lectures
- 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
Practices
Seminars
Reading material
Obligatory literature
Literature developed by the Department
POTEPEDIA, Teams, Neptun Meet Street
Notes
Recommended literature
The basis is the topics of the lectures.
Further readings:
Tom Strachan and Andrew P. Read: Human Molecular Genetics (5th Edition)
Conditions for acceptance of the semester
Maximum of 15 % absence allowed
Mid-term exams
none
Making up for missed classes
none
Exam topics/questions
Neptun Meet Street system.
Examiners
- 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