2024/2025

Dates of lectures: 

Lectures will be held in online form (asynchronic). It will be available on MS Teams Platform:  Genetics 1 EU - 1st year 2024/2025   key to the room:  ceidy98

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.

TOPICS

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

natalia.jarosz@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 (28.02.2025)

Chromosomal organization of human genome

Principles of cytogenetic nomenclature

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

EXERCISE 1+2 (28.02.2025)

Laboratory methods enabling the diagnosis of chromosomal aberrations.

Analysis of karyotypes 

SEMINAR 2 (07.03.2025)

Numerical and structural chromosome aberrations

Cytogenetic diagnostics

EXERCISE 3+4 (07.03.2025)

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 (14.03.2025)

Point mutations

Monogenic diseases

Cytogenetic diagnostics

EXERCISE 5+6 (14.03.2025)

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

SEMINAR 4 (21.03.2025)

Principles of pedigree construction

EXERCISE 7+8 (21.03.2025)

Determining the type of inheritance based on pedigree analysis

SEMINAR 5 (28.03.2025)

Principles of genetic counseling

EXERCISE 9+10 (28.03.2025)

Final test

Files to download and read:

SYLLABUS

RULES AND REGULATIONS OF THE GENETICS I COURSE