Samenvatting Inleiding Genetica en Neurowetenschappen
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Course
Inleiding Genetica En Neurowetenschappen
Institution
Hogeschool Gent (HoGent)
Dit is een samenvatting van het vak Inleiding Genetica en Neurowetenschappen. Dit vak wordt in het tweede semester van het eerste jaar professionele bachelor Orthopedagogie gegeven. Met mijn samenvatting behaalde ik 17/20 in de eerste examenkans. Ik had de cursus zelf niet meer nodig.
INLEIDING GENETICA EN
NEUROWETENSCHAPPEN
Samenvatting semester 2
Bachelor in de Orthopedagogie
2020-2021
Femke Peeters
, Genetica
1. De erfelijke code en de wijze waarop ze wordt doorgegeven
Situering in de cel .................................................................................................................................... 9
Het celmembraan .............................................................................................................................. 10
Het cytoplasma.................................................................................................................................. 10
De nucleus of celkern ........................................................................................................................ 12
Uitzicht van het erfelijk materiaal ......................................................................................................... 13
De enkelvoudige chromatinedraadjes .............................................................................................. 13
Omvorming tot chromosomen.......................................................................................................... 13
Het karyogram of de chromosomenkaart ......................................................................................... 14
Het karyotype of chromosomenformule .......................................................................................... 15
DNA: een werkplan................................................................................................................................ 15
Hoe de code wordt doorgegeven: celdelingen ..................................................................................... 16
Soorten celdelingen........................................................................................................................... 16
Doelstellingen ........................................................................................................................................ 17
2. Klassieke overervingspatronen
Enkele basisbegrippen ........................................................................................................................... 18
Genen en allelen................................................................................................................................ 18
Het menselijk genoom....................................................................................................................... 19
Het genotype en het fenotype .......................................................................................................... 19
Homozygoot, heterozygoot en hemizygoot ...................................................................................... 20
Omzetting van genotype naar fenotype ............................................................................................... 20
Dominantie en recessiviteit ............................................................................................................... 20
Hemizygote eigenschappen .............................................................................................................. 21
X-gebonden recessieve overerving ............................................................................................... 21
X-gebonden dominante overerving .............................................................................................. 22
Overzicht omzetting van genotype naar fenotype............................................................................ 22
Genetische overdracht van ouders naar kinderen ................................................................................ 23
Het stamboomonderzoek.................................................................................................................. 23
Het rooster van Punnett .................................................................................................................... 24
Principes rooster van Punnett ....................................................................................................... 24
4 soorten klassieke overervingspatronen ..................................................................................... 25
Overdracht van autosomaal recessieve kenmerken ..................................................................... 26
Overdracht van autosomaal dominante kenmerken .................................................................... 27
Overdracht van X-gebonden recessieve kenmerken .................................................................... 28
Overdracht van X-gebonden dominante kenmerken.................................................................... 29
1
Femke Peeters
,Doelstellingen ........................................................................................................................................ 30
3. Enkele monogene ziektebeelden
Neurale buisdefecten ............................................................................................................................ 38
Anencefalie ........................................................................................................................................ 38
Open rug of Spina Bifida (aperta) ...................................................................................................... 38
Spina Bifida occulta ........................................................................................................................... 39
Andere structurele lichaamsmisvormingen ......................................................................................... 39
Gespleten lip met of zonder gespleten verhemelte.......................................................................... 39
Klompvoet ......................................................................................................................................... 40
Ontwrichte heup ............................................................................................................................... 40
Doelstellingen ........................................................................................................................................ 40
5. Numerieke en structurele chromosoomdefecten
Enkele algemene vaststellingen ............................................................................................................ 41
Incidentie van chromosomale afwijkingen ....................................................................................... 41
Mogelijke oorzaken ........................................................................................................................... 41
Gradaties in de gevolgen ................................................................................................................... 42
Numerieke autosomale afwijkingen ..................................................................................................... 42
Trisomie 21 of het syndroom van Down ........................................................................................... 42
Volledige trisomie 21 (94%) .......................................................................................................... 43
Partiële trisomie door translocatie (4%) ....................................................................................... 43
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Femke Peeters
, Mozaïeken van trisomie 21 (2%) ................................................................................................... 44
Andere autosomale trisomieën ......................................................................................................... 44
Trisomie-18: syndroom van Edwards ............................................................................................ 44
Trisomie-13: syndroom van Patau ................................................................................................ 45
Structurele autosomale afwijkingen ..................................................................................................... 45
Cri-du-chat-syndroom (5p-)............................................................................................................... 45
Wolf-Hirschhom-syndroom (4p-) ...................................................................................................... 45
Geslachtschromosomale numerieke afwijkingen ................................................................................. 46
Vrouwelijke afwijkingen .................................................................................................................... 46
Het syndroom van Turner (45, X0) ................................................................................................ 46
Het triple-X of XXX-syndroom (47, XXX) ........................................................................................ 47
Mannelijke afwijkingen ..................................................................................................................... 47
Klinefeltersyndroom (47, XXY) ...................................................................................................... 47
XYY-syndroom of ‘le chromosome du crime’ (47, XYY) ................................................................. 48
Doelstellingen ........................................................................................................................................ 48
6. Genetische advisering en prenataal onderzoek
Het genetisch advies ............................................................................................................................. 49
Situering ............................................................................................................................................ 49
De mogelijke herkomst van aangeboren afwijkingen ....................................................................... 49
Normale ontwikkeling van de vrucht in de baarmoeder .............................................................. 49
Oorzaken van aangeboren afwijkingen ......................................................................................... 50
Genetic counseling ............................................................................................................................ 51
Het prenataal onderzoek....................................................................................................................... 52
Doelgroepen ...................................................................................................................................... 52
Prenataal onderzoek: niet gespecialiseerd ........................................................................................... 53
Het gynaecologisch onderzoek.......................................................................................................... 53
Prenataal onderzoek: gespecialiseerd................................................................................................... 53
Het vruchtwateronderzoek ............................................................................................................... 53
Vlokkentest ........................................................................................................................................ 53
Tripple test – combinatietest ............................................................................................................ 54
Niet Invasieve Prenatale Test (NIPT) ................................................................................................. 54
Navelstrengpunctie of cordocentese ................................................................................................ 55
Preïmplantatie genetische diagnose (PGD) ....................................................................................... 55
Onderzoeksmogelijkheden en beperkingen ..................................................................................... 55
Doelstellingen ........................................................................................................................................ 56
3
Femke Peeters
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