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Samenvatting genetica: ontwikkeling en voortplanting

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Samenvatting van het onderdeel genetica. Op basis van de lessen en de powerpoints. Alle te kennen leerstof voor het examen.

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Course

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GENETICA
H1 klinische genetica inleiding
mogelijkeindelingen v genetischekenmerkenofaandoeningen
1 Chromosomale vs genogwijkingen




2 volgenshet overervingsperroon
mendeliaansofmonogeneovererving




polygene en multisacteriële overerving




niet Mendeliaansof niet traditionele overerving




3 constitutioneel of verworven

,symbolen in een stamboom




ook de volgendegegevens w̅ genoteerd




klinischegenetica medischespecialiteit



PPBr6k

, H2 het humane genoom structuur en variatie
1 DNA
6pgDNApercel 30triljoengekendecellen 1809DNA in On
lichaam
4 Dr A T G C
totaal 2 3miljard nt
het204100jaardurenom 1 nr sec telezen
stapel v 129M

DNAcould store al 9 the world's data in oneroom

3miljard basenparen


75 Intergenisch 25 genen Eexoom
causrenëanden
uniekeofrepetievesequenties
gverspreid 50 2 000 coderend
telomeren 44000 niet coderend
structurelegunctie centromeren 8
ERNA
rRNA
MINA eiwit
transposons springendegenen 2nA zwerende
evolutionairerestanten
pseudogen
retrovirussen housekeeping ÊËÊÉnintronn M
verwantehomo
sapiens regulerend
exoom allecoderendeexonennu
1gen meerdereeiwitten
alternatieveskatebaan
vitamine C is vitaalvoordemensomdatwehetnietzelfaanmaken

, DNA MRNA eiwit kenmerken geenverband
weessusenooien Issn genen
n.gg scmivoanusrorasmaujmjEnf
bv productiev
sroningssectors
I.EEkJenvie encomplexiva
vorganisme

elkelocus 2exemplaren
2 alleen

GENÖTYPE
FENOTYPE
i gegrijpediair zichtbaar

gyffagesam S weer
suggereercreatinerinase
nierzichtbaar
dominant
homozygoot zalieten identiek recessief
Codominant
12E.gg iateF4uaenInIomosoon
deserie
Genen 1 kenmerk MONOGEEN

61 meestal omgeving
POLYGEEN
62 1kenmerk muivigacrorieel

63
kenmerk 1
reiomopie
6 kenmerk

variatie variant 1 v ddierenin eenpopulatie
polymorfisme 1 v ddierenineenpopulatie
mutatie ontstoonsmechanismevvariatie
variatiemetnegatiefeffect

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Uploaded on
April 16, 2026
Number of pages
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Written in
2024/2025
Type
SUMMARY

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