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Samenvatting Geneeskunde - Van cel tot molecuul

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Uitwerking van alle tentamenstof van cel tot molecuul met afbeeldingen

Institution
Universiteit Leiden (UL)
Course
Van cel tot molecuul

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HC-03 overervingspatroon II
steekvragen notities

welke autosomale type dominant recessief
van overerving bestaan
verticale transmissie horizontale transmissie
er?
kind 50% kans dragers

1 ouder sws aaangedaan pseudodominantie

evenveel mannen als vrouwen meer kans bij consanguiniteit

evenveel mannen als vrouwen

pseudodominantie: wanneer alleen recessieve allel wordt
doorgegeven vanwege defect dominante allel

dominant recessief
wat is geen man-zoon transmissie geen man-man transmissie
pseudodominantie?
altijd man-dochter transmissie meer mannen dan vrouwen ziek
welke X-gebonden
X-gebonden→bij vrouwen wordt 1x chromosoom
type van overerving
bestaan er? geïnactiveerd

mozaïcisme=combinatie van niet-aangedane en aangedane
cellen

somatisch: deel van cellen aangedaan

gonadisch: deel van geslachtcellen mutatie
wat is mozaïsme en
ontstaan(negatief getest als dragers)
welke vormen zijn er?
uniparentale disomie=allel doorgeven van 1 ouders ipv
beide ouders

iso: meisose II error waardoor alleen 1 soort allel van 1
wat is uniparentale ouder wordt doorgegeven
disomie en welke
hetero: meiose I error waardoor twee verschillende
vormen zijn er?
allelen van 1 ouder worden doorgegeven




HC-03 overervingspatroon II 1
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Institution
Universiteit Leiden (UL)
Study
geneeskunde
Course
Van cel tot molecuul
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Document information

Uploaded on
January 25, 2026
Number of pages
2
Written in
2025/2026
Type
SUMMARY

Subjects

  • geneeskunde
  • cel tot molecuul
  • overervingspatronen
  • medische genetica
  • het
  • nucleïnezuren en eiwitten
  • membranen en transportprocessen
  • metabolisme en enzymologie
  • cellulaire communicatie en signaaloverdracht
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