Basics of Human Genetics

Data

Official data in SubjectManager for the following academic year: 2024-2025

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.

  - 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

Practices

Seminars

Reading material

Obligatory literature

Literature developed by the Department

Teams, POTEPedia

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

written exam, oral exam

Mid-term exams

none

Making up for missed classes

none

Exam topics/questions

Neptun Meet Street system.

Examiners

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

Instructor / tutor of practices and seminars