Basics of Human Genetics

Adatok

A Tantárgybejelentőben megadott hivatalos adatok az alábbi tanévre: 2022-2023

Tematika

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.

Előadások

• 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

Gyakorlatok

Szemináriumok

A tananyag elsajátításához szükséges segédanyagok

Kötelező irodalom

Saját oktatási anyag

POTEPEDIA, Teams, Neptun Meet Street

Jegyzet

Ajánlott irodalom

The basis is the topics of the lectures.
Further readings:
Tom Strachan and Andrew P. Read: Human Molecular Genetics (5th Edition)

A félév elfogadásának feltételei

Maximum of 15 % absence allowed

Félévközi ellenőrzések

none

Távolmaradás pótlásának lehetőségei

none

Vizsgakérdések

Neptun Meet Street system.

Vizsgáztatók

• 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

Gyakorlatok, szemináriumok oktatói