CITOGENETICA

CICLUL CELULAR
 DIVIZIUNEA CELULARA

Mitoza
Mitoza uman

(photomicrograph by Dimarion at
Shutterstock.com )
DIVIZIUNEA CELULARA

Meioza
Spermatogeneza
Ovogeneza
 Comparatie intre spermatogeneza si ovogeneza
Asemanari: Diferente:

Spermatogeneza Ovogeneza

- Implica milioane de - Procesul incepe in

celule dezvoltarea fetala
- Ambele procese incep - Procesul incepe la - Fertilitatea este
cu mitoza pubertate limitata in timp (pana
- Ambele procese includ - Fertilitatea se extinde la menopauza)
meioza pe durata intregii vieti - In urma meiozei
- In urma meiozei rezulta o singura
rezulta 4 celule n celula n
 Aberatii cromozomale numerice

Cromozomi intarziati
Nondisjunctii
Aberatii cromozomale structurale
 Trisomie 21 Sindrom Down

Translocatie 14;21
 Alte maladii autozomale

S. Cri-du-chat

Trisomie 18 (S. Edwards)

 Maladii heterozomale

Klinefelter's Syndrome

Turner Syndrome
Reprezentare schematic a regiunii 15q11-q13. Se observ cele trei breakpointuri (BP1-BP3),
principalele gene dintre BP1 i BP2, precum i genele din regiunea deletat BP2-BP3, fiind
specificate care dintre acestea sufer un proces de imprinting
 Imprinting genomic

PW AS

Schematic presentation of the different genetic defects found in Prader-Willi and Angelman
syndromes. A) Normal imprinting of paternal (P) and maternal (M) regions of 15q11-q13.
In paternal chromosome 15 PWS genes are active (open square) and AS gene(s) inactive
(solid circle), whereas in maternal chromosome 15 PWS genes are inactive (solid square)
and AS gene(s) active (open circle). B) Genetic defects resulting in lack of expression
of paternal genes in PWS. C) Genetics defects resulting in lack of expression of
maternal gene(s) in AS. IC = imprinting centre, UPD = uniparental disomy, ID = imprinting
defect, X = mutation or imprinting switch failure in IC.