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Genetica - uitgebreide samenvatting + opgeloste oefeningen (D013255A) $10.22
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Genetica - uitgebreide samenvatting + opgeloste oefeningen (D013255A)

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  • Course
  • Biologie genetica en embryologie (D013255A)
  • Institution
  • Universiteit Gent (UGent)

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.

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Document information

  • May 21, 2024
  • 54
  • 2023/2024
  • Summary

Subjects

  • notities
  • oefeningen
  • stamboom
  • genetica
  • overerving
  • modificaties
  • chromosomen
  • samenvatting

Written for

  • Universiteit Gent (UGent)
  • Biomedische Wetenschappen
  • Biologie genetica en embryologie (D013255A)
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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

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