Uitgebreide samenvatting die alle notities bevat die tijdens de hoorcolleges aan bod zijn gekomen.
Alle oefeningen opgelost met uitleg erbij.
16,2/20 gehaald voor dit onderdeel.
BIOLOGIE, GENETICA
EN EMBRYOLOGIE
2023-2024
Björn Menten
1
,Inhoudsopgave
Geschiedenis...................................................................................................................... 4
De wetten van Mendel........................................................................................................ 4
Begrippen........................................................................................................................... 5
Humane genetica................................................................................................................ 5
Verschillende vormen van overerving.................................................................................6
Geschiedenis...................................................................................................................... 8
Het chromosoom................................................................................................................ 8
Celcyclus............................................................................................................................. 8
Homologe chromosomen vs zusterchromatiden en recombinatie.....................................10
Cell cycle checkpoints....................................................................................................... 10
Karyogram........................................................................................................................ 11
Meiose.............................................................................................................................. 11
Homologe chromosomen vs zusterchromatiden en recombinatie.....................................12
Meiose zorgt voor genetische variatie..............................................................................12
Humane spermatogenese................................................................................................. 12
Humane oögenese............................................................................................................ 13
Drosophila melanogaster.................................................................................................. 13
De chromosomale basis van geslacht...............................................................................14
XY tijdens de meiose......................................................................................................... 14
XY-chromosoom................................................................................................................ 14
X-gebonden koppeling bij de mens...................................................................................15
Genetic distance: Alfred Sturtevants genetic linkage map................................................19
Recombinatie frequentie................................................................................................... 20
Hardy Weinberg equilibrium............................................................................................. 20
Linkage equilibrium.......................................................................................................... 22
Linkage disequilibrium...................................................................................................... 22
Haplotypes en linkage disequilibrium...............................................................................23
Van chromosoom tot gen.................................................................................................. 24
DNA structuur................................................................................................................... 24
Nucleobase vs nucleoside vs nucleotide...........................................................................25
Dubbele streng................................................................................................................. 25
The human genome.......................................................................................................... 27
Repeats in the (human) genome......................................................................................27
From ‘one-gene-one-enzyme’ to the Central Dogma........................................................28
Centrale dogma................................................................................................................ 28
Transcriptie:...................................................................................................................... 29
2
,Translatie in detail............................................................................................................ 30
Gen regulatie in bacteriën................................................................................................ 34
Regulatorische gebieden controleren transcriptie............................................................34
Gen regulatie in eukaryoten............................................................................................. 37
Transcriptie factoren......................................................................................................... 37
Post-translationele modificaties........................................................................................38
Gen regulatie door epigenetische factoren.......................................................................38
MUTATIES EN VARIATIES................................................................................................... 39
Genetische variatie........................................................................................................... 39
Numerieke variaties.......................................................................................................... 39
Numerieke en structurele chromosomale variatie............................................................40
Single nucleotide variants................................................................................................. 40
Coding variant: indel......................................................................................................... 40
Non-coding variant: splice site variation...........................................................................41
Welke varianten zijn causaal?........................................................................................... 41
Loss of function................................................................................................................. 41
Gain of function................................................................................................................ 42
Dominant negatief effect.................................................................................................. 42
Classificatie van varianten................................................................................................ 42
COMPLICATING FACTORS AND NON-MENDELIAN INHERITANCE........................................44
Complicating factors......................................................................................................... 44
De novo mutaties.............................................................................................................. 44
Gereduceerde of incomplete penetrantie.........................................................................44
Variabele expressie.......................................................................................................... 45
Locus heterogeniteit......................................................................................................... 45
Niet-mendiaalse overerving.............................................................................................. 45
Geslachts gebonden overerving.......................................................................................45
Triplet repeats.................................................................................................................. 46
Mozaïcisme....................................................................................................................... 47
pseudodominantie............................................................................................................ 47
Fenokopijen...................................................................................................................... 47
imprinting......................................................................................................................... 47
mitochondriale overerving................................................................................................ 49
OEFENINGEN..................................................................................................................... 50
1. MENDEL STAMBOMEN
3
, GESCHIEDENIS
Darwin wist zelf niet hoe de genetica zat
Vroeger dachten dat wetenschappers dat er een mini baby in de zaadcel zat en dat
eicel voor voedingstoffen zorgde
o Anderen dacht dan weer dat de eicel het belangrijkste was waar een klein
mensje inzat en geactiveerd wordt door zaadcel
Boek van Darwin
o Geen idee hoe de evolutie gebeurde
o Wel beschreven dat het een mix van vader en moeder was
o Ander boek:
Gemules (bevatten specifieke informatie van haar, oogkleur,…) die
ontstaan van verschillende delen van lichaam en deze verzamelen zich
dan in eicel -> kwamen samen in zygote
Darwin zei dat de kenmerken kunnen veranderen
Boek zat er compleet naast
Francis Galton
o Grondlegger van “nature or nurture”
Wat ligt er vast bij geboorte? (nature) en wat is er van belang bij
opvoeding? (nurture)
o Hereditary Genius (boek)
Intelligent zijn is over erfbaar
Als iemand een belangrijke positie had -> die persoon was ‘gifted’:
hoog IQ
Zat in de familie dan
o Grondlegger van eugentica
Francis vond dat mensen die “highly gifted” waren ook met mensen
moesten trouwen die highly gifted waren
o Overerfbaarheid
Gemules zouden door bloed getransporteerd worden naar waar ze
moeten zijn
Testen met konijnen
De wetten van Mendel
DE WETTEN VAN MENDEL
Testen met erwten
Geluk dat 7 kenmerken oftewel op een ander chromosoom lagen of ver van elkaar
gelegen lagen
o Onafhankelijk van elkaar segregeren
Kunnen onafhankelijk onderzoeken
1ste wet van Mendel:
o Als men 2 homozygote individuen die slechts in 1 kenmerk verschillen kruist,
zijn in de eerste generatie alle nakomelingen gelijk aan elkaar
2e wet van Mendel
o Bij kruising van individuen uit de F1-generatie, ontstaan in de F2-generatie
nakomelingen met verschillend fenotype met een vaste getalsverhouding van
3:1 in het geval van dominant-recessieve overerving
En 1:2:1 in geval van codominante overerving
4
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller biomedstu. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $10.05. You're not tied to anything after your purchase.
