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Genetica samenvatting 1e bach

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  • Course
  • Genetica (D013255A)
  • Institution
  • Universiteit Gent (UGent)

Dit is een samenvatting van het vak Genetica 2e semester 1e bach, gegeven door prof Menten. Deze samenvatting is volledig! Het bevat afbeeldingen van de slides om alle uitleg te verduidelijken. Ik heb voor deze samenvatting alle lesvideo's herbekeken, zodat ik alle belangrijke zaken dat gezegd werd...

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  • April 13, 2022
  • 63
  • 2021/2022
  • Summary

Subjects

  • genetica
  • 1e bach
  • prof menten
  • 2e semester
  • complete
  • ugent
  • samenvatting

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  • Universiteit Gent (UGent)
  • Biomedische Wetenschappen
  • Genetica (D013255A)
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Inhoudsopgave
1.1. Mendel......................................................................................................................................................... 3
1.2. Mitose.......................................................................................................................................................... 5
1.2.1. Celcyclus (±24u) ................................................................................................................................... 5
1.2.2. Mitose ................................................................................................................................................. 6
1.3. Meiose ......................................................................................................................................................... 7
1.3.1. Recombinatie - crossing over .............................................................................................................. 9
1.3.2. Spermatogenese .................................................................................................................................. 9
1.3.3. Oögenese ............................................................................................................................................. 9
2.1. Mendel en Punnet Square ......................................................................................................................... 10
2.2. Studie meiose ............................................................................................................................................ 11
2.3. chromosomale basis van geslacht ............................................................................................................. 12
2.4. XY-chromosoom ........................................................................................................................................ 12
2.5. X-inactivatie............................................................................................................................................... 13
2.5.1. X-inactivatie bij vrouwelijke zoogdieren (Lyonisatie) ........................................................................ 13
2.5.2. mechanisme X-inactivatie.................................................................................................................. 14
2.6. X-gebonden aandoeningen ....................................................................................................................... 16
2.7. onafhankelijke segregatie vs. gekoppelde segregatie ............................................................................... 17
2.8. Genetic Distance ........................................................................................................................................ 17
2.8.1. Alfred Sturtevants genetic linkage maps ........................................................................................... 17
2.8.2. Recombination rates ......................................................................................................................... 18
2.9. coPGT-M via haplotypering ....................................................................................................................... 20
2.10. Overervingen ........................................................................................................................................... 21
3.1. Humane Chromosoom ............................................................................................................................... 22
3.1.1. van DNA tot chromosoom ................................................................................................................. 23
3.2. Het DNA ..................................................................................................................................................... 23
3.2.1. Human Referense Sequence ............................................................................................................. 24
3.2.2. Repeats in menselijk genoom ............................................................................................................ 25
3.2.3. Expressie van genen: van genotype to fenotype ............................................................................... 25
3.3. van DNA naar eiwit.................................................................................................................................... 25
Via centraal dogma: ......................................................................................................................................... 25
3.3.1. Transcriptie (in celkern) ..................................................................................................................... 26
3.3.2. Translatie (in cytoplasma) ................................................................................................................. 28
3.3.3. Post-translationele midificaties ......................................................................................................... 29
3.3.4. Niet-coderende genen: miRNA en lncRNA ........................................................................................ 29
3.4. elke AZ heeft verschillende functies........................................................................................................... 29
3.5. Mitochondriën en mtDNA.......................................................................................................................... 30
• In 1 cel --> veel mitochondriën ................................................................................................................ 30
3.5.1. overerving .......................................................................................................................................... 30
3.5.2. stamboom.......................................................................................................................................... 31
3.5.3. oefeningen ......................................................................................................................................... 31
4.1. Gen regulatie in bacteriën ......................................................................................................................... 32
4.1.1. Lac operon ......................................................................................................................................... 33
4.1.2. Trp operon ......................................................................................................................................... 34

, 4.2. Gen regulatie in eukaryoten ...................................................................................................................... 35
4.2.1. Transcriptie factoren (TF) .................................................................................................................. 36
4.3. Gen regulatie na transcriptie ..................................................................................................................... 38
4.3.1. Gen regulatie door noncoding RNAs ................................................................................................. 38
4.3.2. Post-translational modifications: fosforylatie ................................................................................... 39
4.3.3. Post-translational modifications: ubiquitination ............................................................................... 39
4.4. Gen regulatie bij epigenetica..................................................................................................................... 39
4.4.1. DNA methylatie ................................................................................................................................. 39
4.4.2. Histon modificaties ............................................................................................................................ 40
4.4.3. Histon varianten ................................................................................................................................ 41
4.4.4. Gen regulatie door 3D structuur ....................................................................................................... 41
4.5. Samenvatting: .......................................................................................................................................... 42

................................................................................................................................................................... 42
4.6. Globin gene regulation .............................................................................................................................. 43
4.6.1. Globin gene regulation and haemoglobinopathies ........................................................................... 44
4.6.2. Beta-thalassemia ............................................................................................................................... 44
4.6.3. sikkelcelanemie ................................................................................................................................. 45
5.1. Genetische variatie .................................................................................................................................... 46
5.1.1. Variaties in genoom kunnen aanleiding geven tot aandoeningen .................................................... 46
5.2. Numerieke variaties................................................................................................................................... 47
5.3. Structurele variaties .................................................................................................................................. 48
5.4. Single nucleotide varianten (= er is maar 1 enkele variant opgetreden) ................................................... 49
5.5. Het humane genoom ................................................................................................................................. 49
5.5.1. coding variations ............................................................................................................................... 49
5.6. Nomenclatuur !!!!! .................................................................................................................................... 51
5.6.1. Hoe gaan we tellen? .......................................................................................................................... 51
5.6.2. coding variation: nomenclature ........................................................................................................ 52
5.7. variaties - samenvatting !!!!!.................................................................................................................... 53
5.8. Causal variants .......................................................................................................................................... 53
5.8.1. Mutations: molecular defect/effect .................................................................................................. 53
5.8.1.1. Mutations - key words .................................................................................................................... 54
5.8.2. Classification of variants: theory ....................................................................................................... 54
5.9. oefeningen ................................................................................................................................................. 55
5.10. Soorten mutaties ..................................................................................................................................... 55
6.1. Complicating factors.................................................................................................................................. 56
6.1.1. De novo mutaties .............................................................................................................................. 56
6.1.2. Gereduceerde penetrantie of incomplete penetrantie ..................................................................... 57
6.1.3. variabele expressie ............................................................................................................................ 57
6.1.4. Locus heterogeniteit .......................................................................................................................... 58
6.2. Niet-mendeliaanse overerving .................................................................................................................. 58
6.2.1. geslachtsgebonden overerving .......................................................................................................... 58
6.2.2. X-gebonden dominante overerving ................................................................................................... 58
6.2.3. Triplet repeats - dynamische mutaties .............................................................................................. 59
6.2.4. Mozaïcisme ........................................................................................................................................ 60
6.2.5. Pseudodominantie............................................................................................................................. 60
6.2.6. Fenokopij ........................................................................................................................................... 60
6.2.7. Imprinting .......................................................................................................................................... 60
6.2.8. Mitochondriale overerving ................................................................................................................ 63

,H1: Mendel, mitose en meiose
1.1. Mendel
• Vroeger: Humunculus in sperm (animalkulism) or in the egg (ovism) --> men dacht dat er een
mini-mens klaarzat in de eicel of zaadcel die alsmaar groter werd

• Darwin:
o geen idee hoe survival of the fittest werkte
o Pangenesis (einde leven, zat er volledig naast)
• Vrouw en man noodzakelijk
• Uit cellen kwamen kleine zaadjes/gemmuli die kenmerken droegen
• Samen naar de eicel en zaadcel via bloed

• Francis Galton:
o Werkt verder op Darwin
o Nature (genen) or nurture (opvoeding)
o Keek naar overerving intelligentie
o Pangenese theorie testen met experimenten konijnen:
• Bloed van wit konijn in zwart konijn, dan moet dat konijn zwart/witte
konijnen krijgen --> klopt niet

• Mendel:
o Beschrijft het al vroeg heel juist
• MAAR op andere plaats, dus hij was niet in contact met anderen
o Succes? Hij het geluk bij de experimenten van de erwtenplanten
• Al deze 7 kemnerken (genen) lagen op verschillende chromosomen
• Hij wist dit zelf niet, hij wist niet eens wat chromosomen waren
o Belangrijke wetten:
• Eerste wet: uniformiteitswet
 Kruising 2 homozygote individuen met 1 verschillend kenmerk --> F1-
generatie nakomelingen gaan gelijk en identiek zijn aan elkaar.


• D
• D
• D
• D
• D
• D
• D
• D
• Dd
• D
• D
• D
D
•

, 1. Tweede wet: splitsingswet
 Bij kruising individuen uit F1-generatien ontstaan F2-generatie nakomelingen met
verschillend fenotype.
o Dominant-recessieve overerving: getallenverhouding van 3:1
o Codominante overerving: getallenverhouding van 1:2:1

3. Derde wet: onafhankelijkheidswet
 Bij polyhybride kruising erven de verschillende factoren onafhankelijk van elkaar over

• Dominant vs recessief:
o Dominant = komt tot uiting (krijgt hoofdletter)
o Recessief = komt niet tot uiting (in aanwezigheid van Dominant!), komt wel tot uiting
bij homozygoot individu

• Homozygoot vs heterozygoot vs hemizygoot:
o Homozygoot = 2x zelfde allel
o Heterozygoot = 2 verschillende allelen
o Hemizygoot = slechts één gen/allel voor een eigenschap in het genotype is aanwezig

• Codominantie:
o Mendel:
 Volledige dominantie van een allel
o Onvolledige dominantie:
 F1-hybride = tussenvorm tussen 2 raszuivere varianten
 Niet volgens blending hypothese
 In F2 terug recessieve toestand
o Zie tekening: zowel rode en witte bloem zijn dominant,
dat wil zeggen dat ze allebei maar 1 allel kunnen doorgeven (namelijk Cr of Cw).
Bij roze bloem heb je keuze --> punnet-square gebruiken om aantal
mogelijkheden te tonen.

• Punnet-square:
o Onafhankelijke segregatie vs gekoppelde segregatie




Kijken naar 2 kenmerken:
• Gezamelijke sortering = koppeling tussen
2 kenmerken (dominante bij elkaar en
recessieve bij elkaar) ; volledige koppeling

• Onafhankelijke sortering = geen koppeling
(alle mogelijke combinaties --> je krijgt
dan meer versch mogelijkheden) ;
volledige ontkoppeling

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