Genetics EU- 1st year

Genetics -European Program


Dates of lectures: 

Lectures will be held in online form (asynchronic). It will be available on MS Teams Platform:  Genetics I EU- 1st year 2023/2024  key to the room:  ceidy98



Below is a list of topics along with their presentation dates, as well as a guidelines of how a given presentation should be constructed.


Depending on the number of students, one student will have to prepare two presentations. Write down your names on the list of topics and give it to your teacher at the first classes

Note: each topic must be presented.
If you have any questions, please contact me via email.

Natalia Diak





Schedule of seminars and labs:

Classes are held in seminar room 400 (Department of Molecular Biology, Building C1/ IV floor)

SEMINAR 1 (01.03.2024)

Chromosomal organization of human genome

Principles of cytogenetic nomenclature

Dysmorphology of head, eyes,ears, nose, hand, feet

EXERCISE 1+2 (01.03.2024)

Laboratory methods enabling the diagnosis of chromosomal aberrations.

Analysis of karyotypes 



SEMINAR 2 (08.03.2024)

Numerical and structural chromosome aberrations

Cytogenetic diagnostics

EXERCISE 3+4 (08.03.2024)

Diseases conditioned by numarical  aberrations: Down syndrome, Patau syndrome, Edward's syndrome, Turner syndrome, Klinefelter syndrome - frequency of occurrence, molecular basis.

Diseases conditioned by structural aberrations:  Angelman syndrome, Prader-Willi syndrome, DiGeorge syndrome - frequency of occurrence, molecular basis.



SEMINAR 3 (15.03.2024)

Point mutations

Monogenic diseases

Cytogenetic diagnostics

EXERCISE 5+6 (15.03.2024)

Selected monogenic diseases- frequency of occurrence, type of mutation, correlation phenotype-genotype



SEMINAR 4 (22.03.2024)

Principles of pedigree construction

EXERCISE 7+8 (22.03.2024)

Determining the type of inheritance based on pedigree analysis



SEMINAR 5 (05.04.2024)

Principles of genetic counseling

EXERCISE 9+10 (05.04.2024)

Final test



Files to download and read: