New program of studies 2024/2025
2024/2025
Dates of lectures:
Lectures will be held in online form (asynchronic). It will be available on MS Teams Platform: Genetics 1 - 1st year 2024/2025 key to the room: n4ahut2
Attention!!!
Below is a list of topics along with their presentation dates, as well as a guidelines of how a given presentation should be constructed.
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.
Karolina Bajdak-Rusinek
kbajdak-rusinek@sum.edu.pl
Schedule of seminars and labs:
Classes are held in the room 400 (the Department of Molecular biology and Genetics, C1/4th floor).
SEMINAR 1 (10.04.2025)
Chromosomal organization of human genome
Principles of cytogenetic nomenclature
Dysmorphology of head, eyes,ears, nose, hand, feet
EXERCISE 1+2 (10.04.2025)
Laboratory methods enabling the diagnosis of chromosomal aberrations.
Analysis of karyotypes
SEMINAR 2 (17.04.2025)
Numerical and structural chromosome aberrations
Cytogenetic diagnostics
EXERCISE 3+4 (17.04.2025)
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 (24.04.2025)
Point mutations
Monogenic diseases
Cytogenetic diagnostics
EXERCISE 5+6 (24.04.2025)
Selected monogenic diseases- frequency of occurrence, type of mutation, correlation phenotype-genotype
SEMINAR 4 (08.05.2025)
Principles of pedigree construction
EXERCISE 7+8 (08.05.2025)
Determining the type of inheritance based on pedigree analysis
SEMINAR 5 (15.05.2025)
Principles of genetic counseling
EXERCISE 9+10 (15.05.2025)
Final test
Files to download and read: