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Samenvatting Les 2 genetica - kennis van gezondheid en inzichten in het ziek zijn - kine 2026

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- overzichtelijk - alles erop en eraan , met alle toebehoren, uitgebreid & compleet - gemaakt na de hervormingen - prof: João Guedelha Sabino - 2026 - 1ste bach - kennis van gezondheid & inzichten in het ziek zijn - ziekteleer - les 2 genetica - gemaakt door kiné strijders voor kiné strijders!

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Les 2 GENETICA
Genetica
= de wetenschap die erfelijkheid & variatie in organismen bestudeerd

Ontdekking v. DNA als drager van erfelijke info

Avery, Watson & Crick, Rosalind Franklin

Ontwikkeling v/d moleculaire genetica & de genoomwetenschappen

Genotype & fenotype

Genotype = erfelijke samenstelling individu

Fenotype = zichtbare eigenschappen individu

 Genotype bepaalt fenotype samen met invloed van omgeving
(bloedgroep)
 Sommige puur genetisch, andere sterk door omgeving beïnvloed
(gewicht)

Gregor Johann Mendel
1822-1884

‘vader v/d genetica’

Oostenrijkse monnik & wetenschapper

Baanbrekend onderzoek naar overerving eigenschappen bij erwtenplanten

Mendeliaanse overerving
Homozygoot dominant AA

Heterozygoot Aa

Homozygoot recessief aa

Wet v. dominantie

= sommige eigenschappen dominant & overschaduwen recessieve
eigenschappen

Wet v. segregatie

= elke ouder draagt 2 kopieën v/e gen (= allel), maar geeft 1 door

 Verklaring recessieve eigenschappen in latere generaties weer
verschijnen

Wet v. onafhankelijke assortiment

,= verschillende eigenschappen onafhankelijk v. elkaar doorgegeven

! alleen bij genen die niet op zelfde
chromosoom liggen




Codominantie
Heterozygoot fenotype uit expressie v. beide allelen



Opbouw genetische code
Opeenvolging basen in nucleïnezuur in celkern

Dubbele helix-structuur

DNA = desoxyribonucleïnezuur

Fosfaargroep + suiker + base

Basen: Complementaire basenparing
A Adenine A=T
T Thymine C=G
G Guanine Purines: A&G
C Cytosine Pyrimidines: T(U)&C

, Suiker-fosfaat-ruggengraat

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