INHOUD
Inleiding: wat is genetica? ....................................................................................................................................... 5
DNa...................................................................................................................................................................... 5
De genetische code ......................................................................................................................................... 5
Gen en proteïne .............................................................................................................................................. 6
Mutaties .......................................................................................................................................................... 6
Het menselijk genoom .................................................................................................................................... 7
Chromosomen ................................................................................................................................................. 7
Wat is genetica? .................................................................................................................................................. 8
Prokaryoot versus eukaryoot .......................................................................................................................... 8
Seksuele voortplanting .................................................................................................................................... 8
Mendeliaanse genetica ........................................................................................................................................... 9
Het begrip erfelijkheid ........................................................................................................................................ 9
Mendels modelorganisme .................................................................................................................................. 9
Mendel’s experimentele opzet ....................................................................................................................... 9
Monohybride kruisingen ................................................................................................................................. 9
Conclusie ......................................................................................................................................................... 9
Monohybride kruisingen ................................................................................................................................... 10
Monohybride kruisingen: model ................................................................................................................... 10
Monohybride kruisingen: meiose/syngamie ................................................................................................ 10
Testkruising ................................................................................................................................................... 10
Recessieve versus dominante mutaties ............................................................................................................ 10
Recessieve mutaties ...................................................................................................................................... 11
Dominante mutaties ..................................................................................................................................... 11
Polymorfismen .............................................................................................................................................. 11
Dihybride kruisingen ..................................................................................................................................... 11
Kansberekeningen ......................................................................................................................................... 11
Aanvullingen op Mendel ....................................................................................................................................... 12
Onvolledige dominantie .................................................................................................................................... 12
Co-dominantie................................................................................................................................................... 12
Letale allelen ..................................................................................................................................................... 12
Sikkelcelanemie ................................................................................................................................................. 13
Penetrantie en expressiviteit ............................................................................................................................ 13
Interacties tussen genen en omgeving ............................................................................................................. 13
Polygene overerving.......................................................................................................................................... 13
1
, Polygene overerving en ziektes ..................................................................................................................... 13
Invloed van omgeving ....................................................................................................................................... 14
Genetische basis van gedrag ......................................................................................................................... 14
Genetische basis voor gedragskenmerken ................................................................................................... 14
Bij mens: nature – nurture ............................................................................................................................ 14
Omgeving – gen interactie in gedrag ............................................................................................................ 15
Metabole keten ................................................................................................................................................. 15
Signaaltransductie ............................................................................................................................................. 15
Complementatietest ......................................................................................................................................... 16
Epistasie ............................................................................................................................................................ 16
Epistasie en kleurpatronen ........................................................................................................................... 16
Chromosomen ....................................................................................................................................................... 17
Experimenten van Morgan ................................................................................................................................ 17
Genen liggen op chromosomen .................................................................................................................... 17
Geslachtschromosomen .................................................................................................................................... 17
X- gekoppelde afwijking .................................................................................................................................... 17
Genenbalans en doseringscompensatie ........................................................................................................... 18
Genetische mozaiek .......................................................................................................................................... 18
Geslachtsbepaling ............................................................................................................................................. 18
Ongeslachtelijke voortplanting ......................................................................................................................... 18
Mannelijk of vrouwelijk gedrag ......................................................................................................................... 18
Homoseksualiteit .............................................................................................................................................. 19
Hybriden ............................................................................................................................................................ 19
Koppeling tussen genen .................................................................................................................................... 19
stukuitwisseling ................................................................................................................................................. 19
Chiasmata...................................................................................................................................................... 19
Stukuitwisseling............................................................................................................................................. 19
Recombinatiefrequentie ................................................................................................................................... 19
Genkartering ..................................................................................................................................................... 20
Volgorde van genen op chromosoom ........................................................................................................... 20
Meervoudige stukuitwisseling ...................................................................................................................... 20
Karteren X chromosoom ............................................................................................................................... 20
Moleculaire merkers ..................................................................................................................................... 20
Genkartering d.m.v. moleculaire merkers .................................................................................................... 21
Fenotype linken aan gen ............................................................................................................................... 21
Cytoplasmatische aggregatie ............................................................................................................................ 21
Cytoplasmatische overerving ........................................................................................................................ 21
2
, Aneuploïdie ....................................................................................................................................................... 21
Aneuploïdie van geslachtschromosomen ..................................................................................................... 22
Wijzigingen in chromosoomstructuur ............................................................................................................... 22
Risico op erfelijke afwijkijngen ...................................................................................................................... 22
Genetisch advies ............................................................................................................................................... 23
etische aspecten van genetische tests .......................................................................................................... 23
Polyploïdie ......................................................................................................................................................... 23
Mutaties ................................................................................................................................................................ 24
Genetische code ................................................................................................................................................ 24
Puntmutatie: basenpaarsubstitutie .................................................................................................................. 24
Verschillende mutaties in zelfde gen ............................................................................................................ 25
Temperatuursgevoelige mutatie ................................................................................................................... 25
Indelmutatie .................................................................................................................................................. 25
Suppressormutatie ........................................................................................................................................ 25
Herstel amber mutatie .................................................................................................................................. 26
Genetische mozaïek door somatische mutatie ............................................................................................. 26
Kiemlijn vs somatische mutatie..................................................................................................................... 26
De celcyclus bij meercellige organismen........................................................................................................... 26
Regulatie van celcyclus door cyclines ........................................................................................................... 26
Proto- oncogenen ......................................................................................................................................... 27
Tumor- suppressor genen ................................................................................................................................. 27
Tumoren en kanker ....................................................................................................................................... 27
Erfelijke of sporadische retinoblastoma ........................................................................................................... 27
Spontane mutaties ............................................................................................................................................ 27
Geïnduceerde mutaties ..................................................................................................................................... 28
Herstel van mutaties ......................................................................................................................................... 28
Genetica van bacteriën en virussen ...................................................................................................................... 29
Werken met bacteriën ...................................................................................................................................... 29
Conjugatie ......................................................................................................................................................... 29
Transformatie .................................................................................................................................................... 30
Virussen ............................................................................................................................................................. 30
Retrovirus .......................................................................................................................................................... 30
Retrotransposon ............................................................................................................................................... 31
Variatie in genoomgrootte ................................................................................................................................ 32
Functie van transposons ................................................................................................................................... 32
Populatiegenetica en evolutie .............................................................................................................................. 33
Wat is populatiegenetica .................................................................................................................................. 33
3
, Hardy-weinberg principe .................................................................................................................................. 33
Mechanismen van evolutie ........................................................................................................................... 33
Evolutietheorie: Lamarck (theorie is verworpen) ............................................................................................. 33
Evolutie door selectie: Thomas Robert ............................................................................................................. 33
Evolutietheorie: Darwin en Wallace.................................................................................................................. 34
Evolutie in menselijke populaties...................................................................................................................... 34
Behoud van variatie .......................................................................................................................................... 34
Selectie op continue variatie ............................................................................................................................. 35
Aanwijzingen voor evolutie ............................................................................................................................... 35
4
Inleiding: wat is genetica? ....................................................................................................................................... 5
DNa...................................................................................................................................................................... 5
De genetische code ......................................................................................................................................... 5
Gen en proteïne .............................................................................................................................................. 6
Mutaties .......................................................................................................................................................... 6
Het menselijk genoom .................................................................................................................................... 7
Chromosomen ................................................................................................................................................. 7
Wat is genetica? .................................................................................................................................................. 8
Prokaryoot versus eukaryoot .......................................................................................................................... 8
Seksuele voortplanting .................................................................................................................................... 8
Mendeliaanse genetica ........................................................................................................................................... 9
Het begrip erfelijkheid ........................................................................................................................................ 9
Mendels modelorganisme .................................................................................................................................. 9
Mendel’s experimentele opzet ....................................................................................................................... 9
Monohybride kruisingen ................................................................................................................................. 9
Conclusie ......................................................................................................................................................... 9
Monohybride kruisingen ................................................................................................................................... 10
Monohybride kruisingen: model ................................................................................................................... 10
Monohybride kruisingen: meiose/syngamie ................................................................................................ 10
Testkruising ................................................................................................................................................... 10
Recessieve versus dominante mutaties ............................................................................................................ 10
Recessieve mutaties ...................................................................................................................................... 11
Dominante mutaties ..................................................................................................................................... 11
Polymorfismen .............................................................................................................................................. 11
Dihybride kruisingen ..................................................................................................................................... 11
Kansberekeningen ......................................................................................................................................... 11
Aanvullingen op Mendel ....................................................................................................................................... 12
Onvolledige dominantie .................................................................................................................................... 12
Co-dominantie................................................................................................................................................... 12
Letale allelen ..................................................................................................................................................... 12
Sikkelcelanemie ................................................................................................................................................. 13
Penetrantie en expressiviteit ............................................................................................................................ 13
Interacties tussen genen en omgeving ............................................................................................................. 13
Polygene overerving.......................................................................................................................................... 13
1
, Polygene overerving en ziektes ..................................................................................................................... 13
Invloed van omgeving ....................................................................................................................................... 14
Genetische basis van gedrag ......................................................................................................................... 14
Genetische basis voor gedragskenmerken ................................................................................................... 14
Bij mens: nature – nurture ............................................................................................................................ 14
Omgeving – gen interactie in gedrag ............................................................................................................ 15
Metabole keten ................................................................................................................................................. 15
Signaaltransductie ............................................................................................................................................. 15
Complementatietest ......................................................................................................................................... 16
Epistasie ............................................................................................................................................................ 16
Epistasie en kleurpatronen ........................................................................................................................... 16
Chromosomen ....................................................................................................................................................... 17
Experimenten van Morgan ................................................................................................................................ 17
Genen liggen op chromosomen .................................................................................................................... 17
Geslachtschromosomen .................................................................................................................................... 17
X- gekoppelde afwijking .................................................................................................................................... 17
Genenbalans en doseringscompensatie ........................................................................................................... 18
Genetische mozaiek .......................................................................................................................................... 18
Geslachtsbepaling ............................................................................................................................................. 18
Ongeslachtelijke voortplanting ......................................................................................................................... 18
Mannelijk of vrouwelijk gedrag ......................................................................................................................... 18
Homoseksualiteit .............................................................................................................................................. 19
Hybriden ............................................................................................................................................................ 19
Koppeling tussen genen .................................................................................................................................... 19
stukuitwisseling ................................................................................................................................................. 19
Chiasmata...................................................................................................................................................... 19
Stukuitwisseling............................................................................................................................................. 19
Recombinatiefrequentie ................................................................................................................................... 19
Genkartering ..................................................................................................................................................... 20
Volgorde van genen op chromosoom ........................................................................................................... 20
Meervoudige stukuitwisseling ...................................................................................................................... 20
Karteren X chromosoom ............................................................................................................................... 20
Moleculaire merkers ..................................................................................................................................... 20
Genkartering d.m.v. moleculaire merkers .................................................................................................... 21
Fenotype linken aan gen ............................................................................................................................... 21
Cytoplasmatische aggregatie ............................................................................................................................ 21
Cytoplasmatische overerving ........................................................................................................................ 21
2
, Aneuploïdie ....................................................................................................................................................... 21
Aneuploïdie van geslachtschromosomen ..................................................................................................... 22
Wijzigingen in chromosoomstructuur ............................................................................................................... 22
Risico op erfelijke afwijkijngen ...................................................................................................................... 22
Genetisch advies ............................................................................................................................................... 23
etische aspecten van genetische tests .......................................................................................................... 23
Polyploïdie ......................................................................................................................................................... 23
Mutaties ................................................................................................................................................................ 24
Genetische code ................................................................................................................................................ 24
Puntmutatie: basenpaarsubstitutie .................................................................................................................. 24
Verschillende mutaties in zelfde gen ............................................................................................................ 25
Temperatuursgevoelige mutatie ................................................................................................................... 25
Indelmutatie .................................................................................................................................................. 25
Suppressormutatie ........................................................................................................................................ 25
Herstel amber mutatie .................................................................................................................................. 26
Genetische mozaïek door somatische mutatie ............................................................................................. 26
Kiemlijn vs somatische mutatie..................................................................................................................... 26
De celcyclus bij meercellige organismen........................................................................................................... 26
Regulatie van celcyclus door cyclines ........................................................................................................... 26
Proto- oncogenen ......................................................................................................................................... 27
Tumor- suppressor genen ................................................................................................................................. 27
Tumoren en kanker ....................................................................................................................................... 27
Erfelijke of sporadische retinoblastoma ........................................................................................................... 27
Spontane mutaties ............................................................................................................................................ 27
Geïnduceerde mutaties ..................................................................................................................................... 28
Herstel van mutaties ......................................................................................................................................... 28
Genetica van bacteriën en virussen ...................................................................................................................... 29
Werken met bacteriën ...................................................................................................................................... 29
Conjugatie ......................................................................................................................................................... 29
Transformatie .................................................................................................................................................... 30
Virussen ............................................................................................................................................................. 30
Retrovirus .......................................................................................................................................................... 30
Retrotransposon ............................................................................................................................................... 31
Variatie in genoomgrootte ................................................................................................................................ 32
Functie van transposons ................................................................................................................................... 32
Populatiegenetica en evolutie .............................................................................................................................. 33
Wat is populatiegenetica .................................................................................................................................. 33
3
, Hardy-weinberg principe .................................................................................................................................. 33
Mechanismen van evolutie ........................................................................................................................... 33
Evolutietheorie: Lamarck (theorie is verworpen) ............................................................................................. 33
Evolutie door selectie: Thomas Robert ............................................................................................................. 33
Evolutietheorie: Darwin en Wallace.................................................................................................................. 34
Evolutie in menselijke populaties...................................................................................................................... 34
Behoud van variatie .......................................................................................................................................... 34
Selectie op continue variatie ............................................................................................................................. 35
Aanwijzingen voor evolutie ............................................................................................................................... 35
4
