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Samenvatting - Algemene En Moleculaire Genetica (UA_1046FBDDIE)
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ALGEMENE &MOLECULAIRE GENETICA
Samenvatting
1E BACHELORE DIERGENEESKUNDE
UNIVERITEIT ANTWERPEN
Campus Drie Eiken
,Inhoud
Inleiding ..................................................................................................................................... 4
Historische en impact van de genetica ........................................................................... 4
Begrippenlijst: ........................................................................................................................ 6
Wetten van Mendel ................................................................................................................ 7
Gregor Mendel ..................................................................................................................... 7
Monohybride kruisingen ...................................................................................................... 7
Dihybride kruisingen ............................................................................................................. 7
Afwijkingen op de wetten van Mendel ............................................................................ 8
Begrippenlijst: ........................................................................................................................ 8
Chromosomen ......................................................................................................................... 9
Structuur van chromosomen .............................................................................................. 9
Mitose..................................................................................................................................... 9
Meiose.................................................................................................................................... 9
Cytogenetische studie van chromosoomstructuren .................................................... 10
Begrippenlijst: ...................................................................................................................... 10
Koppeling, recombinatie en de constructie van genetische kaarten .......................... 11
Koppeling ............................................................................................................................ 11
Recombinatie ..................................................................................................................... 11
Constructie van genetische kaarten .............................................................................. 11
Correlatie tussen recombinatiefrequentie en genetische afstand ............................ 11
Moleculaire biologie.............................................................................................................. 12
Structuur van DNA en RNA ............................................................................................... 12
Replicatie van DNA ........................................................................................................... 12
DNA herstel.......................................................................................................................... 13
Transcriptie en regulatie van genexpressie .................................................................... 13
Translatie en posttranslationele modificatie................................................................... 16
Begrippenlijst ....................................................................................................................... 17
Overervingswijzen .................................................................................................................. 18
Voorstelling van stambomen ........................................................................................... 18
] ......................................................................................................................................... 18
Monogenische overervingswijzen.................................................................................... 18
Factoren die overervingspatronen compliceren .......................................................... 21
Begrippenlijst ....................................................................................................................... 22
Populatiegenetica ................................................................................................................. 23
Basisprincipes van populatiegenetica ............................................................................ 23
1
, Wet van Hardy-Weinberg ................................................................................................. 23
Voorwaarden voor de wet van Hardy-Weinberg ......................................................... 24
Oorzaken van verstoring van wet van Hardy Weinberg .............................................. 24
1. Natuurlijke selectie .................................................................................................. 24
2. Niet willekeurige paring .......................................................................................... 24
3. Founder effect ......................................................................................................... 24
4. Mutatie...................................................................................................................... 24
5. Migratie..................................................................................................................... 24
Toepassingen van Hardy-Weinberg ................................................................................ 24
Begrippenlijst ....................................................................................................................... 24
Genetische afwijkingen ........................................................................................................ 26
Inleiding ............................................................................................................................... 26
Kiemlijn en somatische mutaties ...................................................................................... 26
Chromosomale afwijkingen .............................................................................................. 27
Euploidieen en aneuploidieen ..................................................................................... 27
Chromosomale herrangschikkingen............................................................................ 27
Sequentievariaties .............................................................................................................. 27
Mutaties ........................................................................................................................... 27
Aangeboren afwijkingen bij de mens ............................................................................. 28
Begrippenlijst ....................................................................................................................... 28
Verband overervingswijzen .................................................................................................. 30
Gain of function mutatie................................................................................................... 30
Loss of function mutatie .................................................................................................... 30
Dosage effect..................................................................................................................... 30
Vergelijking X- en Y-chromosoom .................................................................................... 31
Aneuploidieën van de geslachtschromosomen ........................................................... 31
Begrippenlijst ....................................................................................................................... 31
Basistechnieken gentechnologie ........................................................................................ 32
De constructie van recombinant DNA ........................................................................... 32
1e fase: aanmaak van recombinant DNA .................................................................. 32
2e fase: reproductie van recombinant DNA.............................................................. 32
De studie van specifieke DNA fragmenten.................................................................... 33
Scheiding van DNA fragmenten door gelelektroforese ........................................... 33
Southern blotting en hybridisatie.................................................................................. 33
Amplificatie van specifieke DNA fragmenten door PCR ......................................... 34
Sequentiebepaling van DNA fragmenten ................................................................. 34
2
, Begrippenlijst ....................................................................................................................... 35
Identificatie van ziekte veroorzakende genen ................................................................. 36
Inleiding ............................................................................................................................... 36
Positionele klonering van monogene ziektegenen....................................................... 36
1. Genomische lokalisatie van een ziektegen ........................................................ 36
2. Identificatie van het ziektegen uit de kandidaatregio ..................................... 37
Identificatie van genen bij complexe ziektebeelden ................................................. 38
Begrippenlijst ....................................................................................................................... 39
Farmacogenetica en genomica ........................................................................................ 40
Wat is farmacogenetica ................................................................................................... 40
Historiek ................................................................................................................................ 40
Doelstellingen en verwachtingen van farmacogenetica ........................................... 41
Modelorganismen.................................................................................................................. 42
Inleiding ............................................................................................................................... 42
Analyse van modelorganismen ....................................................................................... 42
.............................................................................................................................................. 43
.............................................................................................................................................. 43
Comparatieve genomica ................................................................................................ 43
Evolutie................................................................................................................................. 44
Duplicaties ....................................................................................................................... 44
Translocaties .................................................................................................................... 44
Begrippenlijst ....................................................................................................................... 44
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