Basics of Human Genetics

Data

Official data in SubjectManager for the following academic year: 2022-2023

Course director

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
Prerequisites:

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

Instructor / tutor of practices and seminars