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The Medical Aspects of Human Population Genetics

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Official data in SubjectManager for the following academic year: 2020-2021

Course director

Dr. Tímea VARJAS (vtimi_68@yahoo.com), assistant professor

Department of Public Health Medicine

Subject data

Code of subject: OAF-PEG-T  |  2 credit  |  General Medicine |  Optional module  |  both semesters

Prerequisites: -

Number of hours/semester

24 lectures + 0 practices + 0 seminars = total of 24 hours

Course headcount limitations

min. 3 – max. 35 person

Available as Campus course for 10 student(s). Campus-faculties: ETK GYTK TTK


Throughout the course, we intend to give enlightenment regarding the practical side of detecting genetic differences between human populations therefore students may familiarize themselves with the conceptual background and medical aspects of the population genetics. The course also intends to show the relation between different disease spectrums and populations by international studies focusing on the detection of rare diseases, origin related researches, migration patterns and forensic medicine.


  • 1. Introduction of population genetics. - Bérczi Bálint Dániel
  • 2. Historical background, basic principles (darwinism and lamarckism, role of migration) - Bérczi Bálint Dániel
  • 3. Factors determining phenotype. - Bérczi Bálint Dániel
  • 4. Genotype, inherited epigenetic factors, non-inherited environmental factors. The industrial melanism. - Bérczi Bálint Dániel
  • 5. Genotype and allele frequencies. - Bérczi Bálint Dániel
  • 6. The Hardy-Weinberg principle and medical examples. - Bérczi Bálint Dániel
  • 7. The Four evolutionary forces. - Bérczi Bálint Dániel
  • 8. Mutation and polymorphism - the author of variation. - Bérczi Bálint Dániel
  • 9. Single nucleotide polymorphisms (SNPs) and diseases. What is the link between? - Bérczi Bálint Dániel
  • 10. Allelic, dominant, recessive and codominant genetic models to associate SNPs with risk. - Bérczi Bálint Dániel
  • 11. Human Genome Project, The International HapMap Project, The 1000Genomes Project. - Bérczi Bálint Dániel
  • 12. Ethical issues of genotyping. - Bérczi Bálint Dániel
  • 13. Natural selection - the editor - Bérczi Bálint Dániel
  • 14. Genetic drift - the randomizer - Bérczi Bálint Dániel
  • 15. Gene flow - the homogenizer - Bérczi Bálint Dániel
  • 16. The genetic distance between ethnic groups. The mitochondrial Eve - Bérczi Bálint Dániel
  • 17. Human origin related researches - The application of chromosome Y. - Bérczi Bálint Dániel
  • 18. Archeogenetics, microorganism related investigations in fossil bones and mummies. - Bérczi Bálint Dániel
  • 19. Application of population genetics in Forensic Medicine. - Bérczi Bálint Dániel
  • 20. Next generation sequencing technologies in Forensic Medicine. - Bérczi Bálint Dániel
  • 21. Various disease spectrums in various ethnic groups. - Bérczi Bálint Dániel
  • 22. The example of ethnic specific pattern of genetic variants in ESR1 and the risk of breast cancer. - Bérczi Bálint Dániel
  • 23. Composition of population genetics researches. - Bérczi Bálint Dániel
  • 24. Methodology and possible workflows from planning to bioinformatics. - Bérczi Bálint Dániel



Reading material

Obligatory literature

Literature developed by the Department

Educational material will be uploaded on Neptun.


Recommended literature

Conditions for acceptance of the semester

Maximum of 15 % absence allowed

Mid-term exams

A simple choice test has to be done on the last lecture.

Making up for missed classes

There are no make-up classes.

Exam topics/questions



Instructor / tutor of practices and seminars