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Samenvatting Menselijke Erfelijkheidsleer
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Samenvatting van het vak menselijke erfelijkheidsleer. Bevat zowel de informatie uit de powerpoint, als extra uitleg en dingen die in de les gezegd werden.
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SAMENVATTINGERFELIJKEHIDSLEER
Academiejaar 2025-2025
Lotte Schuyts
Lotte Schuyts
[E-mailadres]
,Samenvatting Erfelijkheidsleer 2024-2025
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LES 1: DNA structuur en DNA replicatie .................................................................................................. 4
DNA structuur ...................................................................................................................................... 4
DNA replicatie...................................................................................................................................... 6
LES 2: DNA transcriptie en translatie ; gen regulatie ............................................................................... 8
DNA transcriptie .................................................................................................................................. 8
DNA translatie ..................................................................................................................................... 9
Gen regulatie ....................................................................................................................................... 9
Alternatieve splicing ............................................................................................................................ 9
LES 3: mitose en meiose ........................................................................................................................ 10
Chromosoom: opbouw en structuur ................................................................................................. 10
Mitose................................................................................................................................................ 11
Meiose/reductiedeling ...................................................................................................................... 12
Vorming van de gameten .................................................................................................................. 13
LES 4: chromosomale overerving .......................................................................................................... 15
Technieken om de chromosomen te bestuderen .............................................................................. 15
Chromosomale afwijkingen ............................................................................................................... 17
Mozaïcisme ........................................................................................................................................ 21
LES 5: mendeliaanse overerving ............................................................................................................ 22
Terminologie ...................................................................................................................................... 22
Begrippen en definities ..................................................................................................................... 22
Symbolen gebruikt in een stamboom ............................................................................................... 22
Graad van bloedverwantschap .......................................................................................................... 22
Autosomaal recessief ........................................................................................................................ 23
Autosomaal dominant ....................................................................................................................... 24
X-gebonden ....................................................................................................................................... 25
LES 6: niet-mendeliaanse erfelijkheid ................................................................................................... 27
Mitochondriële erfelijkheid ............................................................................................................... 27
Onstabiele trinucleotide repeats- dynamische mutatie .................................................................... 28
Genomische imprinting & epigenetische erfelijkheid ....................................................................... 29
Uniparentale disomie ........................................................................................................................ 29
LES 7: Multifactoriële erfelijkheid ......................................................................................................... 33
Complexe kenmerken en aandoeningen ........................................................................................... 33
Additieve polygenie (continue variabelen)........................................................................................ 34
Drempel polygenie (discontinue variabelen) .................................................................................... 34
Identificatie van genen betrokken in complexe kwantitieve aandoeningen/kenmerken ................. 35
1
Lotte Schuyts
,Samenvatting Erfelijkheidsleer 2024-2025
Voorbeelden van gekende QTL bij multifactoriële aandoeningen .................................................... 36
Hoe wordt bij een multifactoriële aandoening de herhalingskans berekend? ................................. 37
LES 8: mutaties (en polymorfismen)...................................................................................................... 39
Inleiding ............................................................................................................................................. 39
Variatie of mutatie ............................................................................................................................. 39
DNA onderzoek (sequentie bepalen van een gen, opsporen van mutaties) ..................................... 42
LES 9: gedrag en genetica ...................................................................................................................... 45
Experimenten (proef)dieren .............................................................................................................. 45
Mens: natuurlijk ontstane experimenten.......................................................................................... 46
Voorbeelden van interactie tussen genen en omgeving ................................................................... 48
Gedragsproblemen bij specifieke genetische aandoeningen ............................................................ 50
LES 10: kanker en genetica .................................................................................................................... 54
Oncogenese (= kanker) ...................................................................................................................... 54
Kankercel ........................................................................................................................................... 54
Erfelijke kanker .................................................................................................................................. 55
Familiale kankersyndromen: autosomaal recessief........................................................................... 55
Familiale kankersyndromen: autosomaal dominant ......................................................................... 55
LES 11: psychologische aspecten bij predictief genetisch onderzoek (gastcollege) .............................. 60
Predictief genetisch onderzoek ......................................................................................................... 61
Predictief testing: erfelijke borst- en eierstokkanker......................................................................... 62
Traject van predictieve genetische testing ........................................................................................ 64
Predictieve genetische testing: ziekte van Huntington ..................................................................... 67
LES 12: prenatale en preïmplantatie diagnostiek .................................................................................. 71
Trisomie 21 (down syndroom)........................................................................................................... 71
Indicaties voor invasief prenataal onderzoek .................................................................................... 71
Vlokkentest/chorionvillusbiopsie ...................................................................................................... 72
Vruchtwaterpunctie/amniocentesis .................................................................................................. 72
NIPT (niet-invasieve prenatale test) .................................................................................................. 72
Pre-implantatie genetische test (PGT)............................................................................................... 74
LES 13: verstandelijke beperking ........................................................................................................... 79
Verstandelijke beperking ................................................................................................................... 79
Meten van IQ ..................................................................................................................................... 80
Prevalentie en geslachtsverdeling ..................................................................................................... 81
Etiologie van verstandelijke handicap ............................................................................................... 81
Voorbeeld van diagnostische studie in een school voor buitengewoon onderwijs .......................... 82
Overzicht van hoe groot de verstandelijke beperking is bij bepaalde aandoeningen....................... 83
2
Lotte Schuyts
, Samenvatting Erfelijkheidsleer 2024-2025
Andere ontwikkelingsstoornissen ..................................................................................................... 83
Onderscheid ...................................................................................................................................... 83
3
Lotte Schuyts
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