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H3 book summary - lauren pecorino

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H4 summary of the book as a word document

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January 15, 2026
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Hoorcollege Genoominstabiliteit
Aniek Janssen UMC
Instabiliteit = continuous changes to the genome
 terwijl normaal wil je dat het DNA stabiel is en niet verandert

Chromosomale instability
- Anauploidy = abnormale hoeveelheid chromosomen
- Op chromosomal niveau
- Extra chromosoom erbij
- Chromosoom minder

Nucleotide instability

Anauploidy = abnormale hoeveelheid chromosomen
 extra oncogenen
 verlies tumor suppressor genen

Functie eiwit veranderd

Aneuploidy is caused by chromosome missegregations
Misalignment chromosome  ongelijke verdeling chromosome

Aanwezige metabolieten in de cel kunnen carcinogen zijn
- Formaldehyde

Roet bevat carcinogenen  betere bescherming

Chromium zat in verf

DNA schades aan 1 kant van de streng:
1: Mismatch repair
- Na DNA replicatie, wanneer een verkeerde base is
geincopereerd  kan niet baseparen
EXO1 = knipt DNA  base gaat weg

2: Base exision repair
- Subtielere verandering; gemethyleerde base

3: Nucleotide exision repair
Thymine dimeer = Covalente binding tussen de T basen

Detecteren van dsDNA breuk: NHEJ, HR
NHEJ  kan leiden tot korte inserties of deleties
- Snel
- Niet nauwkeurig



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