Genetics of Inherited Diseases - Population Genetics (ω)
Instructor : Braliou Georgia
Course typeElective
TermFall Semester
Teaching hours3
Laboratory hours
Introduction, history of evolutionary thought and genetics, molecular basis of heredity, genetic material and genes, sexual reproduction, mutations, laws of Mendel, qualitative and quantitative hereditary characteristics, complex inheritance, gene interactions, epistasis. Gene frequencies in populations, law of Hardy - Weinberg, deviations from the law of Hardy - Weinberg, linkage disequilibrium, inbreeding. Mutations, genetic recombination, genetic flow (migration), genetic drift, effective population size, founder effect. Adaptability, selection, types of selection (balancing, directional, disruptive, frequency - dependent, sexual, r and K selection), altruism, group selection, kin selection. Methods of study of complex human genetic diseases, linkage studies, association studies (case - control study to families, patient studies - witnesses to the population), gene polymorphisms (SNP) and diseases, large-scale analyzes, meta - analyzes of genetic association studies, examples of complex diseases whose genetic basis has been shown. Study serious genetic diseases in humans with emphasis on molecular mechanism of action, early detection and prevention, hemoglobinopathies (thalassemia, sickle cell anemia), hemophilia, cystic fibrosis, muscular dystrophy, Alzheimer's Huntington, metabolic diseases (phenylketonuria, galactosemia, intolerance lactose, deficiencies of glycogen metabolism, G6PD deficiency), prenatal diagnosis, genetic counseling, preventive newborns control program.
Course objectives

 The objectives of the course are to familiarize students with:

  • Basic concepts of classical and molecular Genetics and Population Genetics.
  • The basic principles of the determination of genetic diversity.
  • Applying basic methods of quantification and analysis of genetic diversity.
  • The evolutionary forces shaping the genetic diversity at the molecular level, but also in populations
  • Τίτλος: iGenetics - μια Μεντελική Προσέγγιση, Συγγραφέας: Peter J. Russell, Εκδοτικός Οίκος: Ακαδημαϊκές Εκδόσεις, Τόπος & Χρόνος Έκδοσης: 2009, ISBN: 978-960-88412-7-7, Κωδικός ΕΥΔΟΞΟΣ: 2626
  • Τίτλος: Thompson & Thompson ιατρική γενετική, Συγγραφείς: NUSSBAUM R., McINNES R.R., WILLARD H.F., Εκδοτικός Οίκος: BROKEN HILL PUBLISHERS LTD, Τόπος & Χρόνος Έκδοσης: 8η εκδ./2011, ISBN: 9789604890620, Κωδικός ΕΥΔΟΞΟΣ: 13256587
  • Τίτλος: Εισαγωγή στη Γενετική, Δ΄ Έκδοση, Συγγραφέας: Σταμάτης Αλαχιώτης, Εκδοτικός Οίκος: Λιβάνη, Τόπος & Χρόνος Έκδοσης: 2011, ISBN: 978-960-442-024-7, Κωδικός ΕΥΔΟΞΟΣ: 12469325
Assessment method
The evaluation is mainly done by written examination at the end of the semester. Additionally, written assignments and / or oral presentations are co-evaluated.
Course material
Lectures in the classroom using multimedia tools (ppt presentations, video, live-stream lectures) Consolidation exercises during the lectures Material in e-class (lectures power-point, suggested exercises) Additional recommended readings