Basics of Human Genetics

Daten

Offizielle Daten in der Fachveröffentlichung für das folgende akademische Jahr: 2020-2021

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. Hadzsiev Kinga
• 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 - Dr. Hadzsiev Kinga
• 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

Skript

Empfohlene Literatur

The basis is the topics of the lectures.
Further readings:
Tom Strachan and Andrew P. Read: Human Molecular Genetics (4th 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. Melegh Béla
• Dr. Szabó András
• Dr. Szalai Renáta

Praktika, Seminarleiter/innen