Basics of Human Genetics

Adatok

A Tantárgybejelentőben megadott hivatalos adatok az alábbi tanévre: 2024-2025

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.

  - Hadzsiev Kinga
• 2.

  Organization of the human genome I. From the nuclear and mitochondrial genome to organization of the chromosomes.

  - Szabó András
• 3.

  
  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.

  - Burján Tiborné Maász Anita
• 4.

  Organization of the human genome III: Basics of cytogenetics, FISH, CGH, array techniques.

  - Szalai Renáta
• 5.

  Construction of pedigree, basics of mendelian inheritance, characteristics of mendelian and non-mendelian inheritance I.

  - Till Ágnes
• 6.

  Construction of pedigree, basics of mendelian inheritance, characteristics of mendelian and non-mendelian inheritance II.

  - Mikó Alexandra
• 7.

  Cytogenetic diagnostics.

  - Czakó Márta
• 8.

  Mutations, SNPs, haplotypes, genetic drift, GWAS.

  - Burján Tiborné Maász Anita
• 9.

  Hardy-Weinberg rule, factors disturbing the equilibrium, linkage, repair mechanisms.

  - Burján Tiborné Maász Anita
• 10.

  Examination methods I. Biochemical diagnostics, enzyme diagnostics, determination of metabolites.

  - Berenténé Bene Judit Ágnes
• 11.

  Examination methods II. Hybridization methods (blot, PCR and modifications, RFLP, Sanger sequencing).

  - Berenténé Bene Judit Ágnes
• 12.

  Examination methods III. and studying gene function, proteomics, bioinformatics, NGS, MLPA).

  - Berenténé Bene Judit Ágnes
• 13.

  Epigenetics, imprinting.

  - Szalai Renáta
• 14.

  Genetics of complex diseases.

  - Hadzsiev Kinga

Gyakorlatok

Szemináriumok

A tananyag elsajátításához szükséges segédanyagok

Kötelező irodalom

Saját oktatási anyag

Teams, POTEPedia

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

written exam, oral exam

Félévközi ellenőrzések

none

Távolmaradás pótlásának lehetőségei

none

Vizsgakérdések

Neptun Meet Street system.

Vizsgáztatók

• Berenténé Bene Judit Ágnes
• Burján Tiborné Maász Anita
• Czakó Márta
• Hadzsiev Kinga
• Magyari Lili
• Melegh Béla
• Szabó András
• Szalai Renáta
• Till Ágnes
• Zsigmond Anna

Gyakorlatok, szemináriumok oktatói