MODULE 12
Genetica en tractus digestivus
Anneke Schutte & Willemijn Sigtermans
AVAG
,Inhoud
Klinische genetica .................................................................................................................................... 8
De menselijke cel................................................................................................................................. 8
Celorganellen................................................................................................................................... 8
Genetische code ................................................................................................................................ 10
Gametogenese .................................................................................................................................. 12
Spermatogenese............................................................................................................................ 12
Oögenese ....................................................................................................................................... 12
Celcyclus ............................................................................................................................................ 13
Mitose............................................................................................................................................ 14
Meiose ........................................................................................................................................... 15
Mutaties Crossing-over ..................................................................................................................... 16
Non disjunctie................................................................................................................................ 16
Translocatie ................................................................................................................................... 17
Robertsoniaanse translocatie ........................................................................................................ 17
Mozaïcisme .................................................................................................................................... 18
Overig ............................................................................................................................................ 18
Wetten van Mendel........................................................................................................................... 19
Erfelijkheidsleer ................................................................................................................................. 19
Wet van Hardy-Weinberg.............................................................................................................. 20
Overervingspatronen ........................................................................................................................ 20
Dominante aandoening ................................................................................................................. 20
Recessieve aandoening ................................................................................................................. 20
Autosomale aandoening ............................................................................................................... 21
X-chromosomaal ........................................................................................................................... 21
Y-chromosomaal............................................................................................................................ 21
Multifactoriële overerving............................................................................................................. 21
Overige genetica............................................................................................................................ 22
Onderzoek/ screening ........................................................................................................................... 23
Prenatale screening ........................................................................................................................... 23
Combinatietest .............................................................................................................................. 23
NIPT ............................................................................................................................................... 24
SEO ................................................................................................................................................ 29
GUO ............................................................................................................................................... 31
Prenatale diagnostiek ........................................................................................................................ 32
Vlokkentest .................................................................................................................................... 32
, Vruchtwaterpunctie (amniocentese) ............................................................................................ 33
Miskraamrisico bij invasieve diagnostiek ...................................................................................... 33
Aangeboren afwijkingen (genetica) ...................................................................................................... 35
Chromosomale aandoening .............................................................................................................. 35
Downsyndroom; trisomie 21 ......................................................................................................... 35
Syndroom van Turner 45X ............................................................................................................. 37
Syndroom van Patau; trisomie 13 ................................................................................................. 38
Syndroom van Edwards; trisomie 18............................................................................................. 40
Klinefelter, 47 XXY ......................................................................................................................... 41
Mono genetische aandoening ........................................................................................................... 42
Autosomaal-dominant....................................................................................................................... 42
Achondroplasie.............................................................................................................................. 42
Osteogenesis imperfecta ............................................................................................................... 43
Thanatofore dysplasie ................................................................................................................... 45
Craniosynostose Crouzon syndroom ............................................................................................. 46
Dystrofia myotonica .......................................................................................................................... 46
Ziekte van Huntington ................................................................................................................... 48
Autosomaal recessief ........................................................................................................................ 49
Epidermolysis bullosa .................................................................................................................... 49
Adrenogenitaal syndroom ............................................................................................................. 50
Sikkelcel anemie/ziekte ................................................................................................................. 51
Cystenieren.................................................................................................................................... 53
Thalassemie ................................................................................................................................... 55
Cystitische fibrose (CF) .................................................................................................................. 57
Marfan syndroom .......................................................................................................................... 61
X-chromosoom gebonden ................................................................................................................. 62
Fragiele X syndroom ...................................................................................................................... 62
Ziekte van Duchenne ..................................................................................................................... 63
Multifactoriële aandoening ............................................................................................................... 65
Embryologie mond en aangezicht Week 4 – 8 ontwikkeling van het aangezicht. ....................... 65
Spleetvorming (schisis) .................................................................................................................. 68
Talipes equinovarus....................................................................................................................... 71
Hypospadie .................................................................................................................................... 72
Aandoening t.g.v. teratogene effecten ............................................................................................. 73
Foetaal alcoholsyndroom (FAS) ..................................................................................................... 73
Symptomen ................................................................................................................................... 74
, Sequenties ......................................................................................................................................... 75
Pierre-Robinsequentie................................................................................................................... 75
Prevalentie..................................................................................................................................... 75
Pottersequentie............................................................................................................................. 77
VACTERL-associatie ....................................................................................................................... 78
Minor malformaties Micrognatie ..................................................................................................... 79
Ankyloglossie ................................................................................................................................. 80
Farmacologie ..................................................................................................................................... 82
Anti-emetica .................................................................................................................................. 82
Antacida......................................................................................................................................... 83
Laxantia en antidiarrhoica ............................................................................................................. 84
Cholesterolsyntheseremmers ....................................................................................................... 84
Antihistaminica .............................................................................................................................. 85
Corticosteroïden ............................................................................................................................ 85
Tractus digestivus .................................................................................................................................. 87
Embryologie....................................................................................................................................... 87
Wanden van het abdomen ............................................................................................................ 88
Oerdarm ........................................................................................................................................ 89
Anatomie + fysiologie ........................................................................................................................ 93
Mondholte (cavum oris) ................................................................................................................ 93
Keelholte (farynx) .......................................................................................................................... 94
Slokdarm (oesofagus) .................................................................................................................... 94
Maag (ventriculus, gaster) ............................................................................................................. 95
Dunne darm ................................................................................................................................... 96
Dikke darm (colon) ........................................................................................................................ 97
Lever (hepar) ................................................................................................................................. 99
Alvleesklier (pancreas) ................................................................................................................ 102
Galblaas (vesica fellea) ................................................................................................................ 103
Pariëtale en viscerale peritoneum .............................................................................................. 104
Milt .............................................................................................................................................. 104
Tractus digestivus en zwangerschap ............................................................................................... 105
Darmperistaltiek .......................................................................................................................... 105
Hoogstand diafragma .................................................................................................................. 105
Maagzuursecretie ........................................................................................................................ 105
Ptyalisme ..................................................................................................................................... 106
Voedingsleer .................................................................................................................................... 106
Genetica en tractus digestivus
Anneke Schutte & Willemijn Sigtermans
AVAG
,Inhoud
Klinische genetica .................................................................................................................................... 8
De menselijke cel................................................................................................................................. 8
Celorganellen................................................................................................................................... 8
Genetische code ................................................................................................................................ 10
Gametogenese .................................................................................................................................. 12
Spermatogenese............................................................................................................................ 12
Oögenese ....................................................................................................................................... 12
Celcyclus ............................................................................................................................................ 13
Mitose............................................................................................................................................ 14
Meiose ........................................................................................................................................... 15
Mutaties Crossing-over ..................................................................................................................... 16
Non disjunctie................................................................................................................................ 16
Translocatie ................................................................................................................................... 17
Robertsoniaanse translocatie ........................................................................................................ 17
Mozaïcisme .................................................................................................................................... 18
Overig ............................................................................................................................................ 18
Wetten van Mendel........................................................................................................................... 19
Erfelijkheidsleer ................................................................................................................................. 19
Wet van Hardy-Weinberg.............................................................................................................. 20
Overervingspatronen ........................................................................................................................ 20
Dominante aandoening ................................................................................................................. 20
Recessieve aandoening ................................................................................................................. 20
Autosomale aandoening ............................................................................................................... 21
X-chromosomaal ........................................................................................................................... 21
Y-chromosomaal............................................................................................................................ 21
Multifactoriële overerving............................................................................................................. 21
Overige genetica............................................................................................................................ 22
Onderzoek/ screening ........................................................................................................................... 23
Prenatale screening ........................................................................................................................... 23
Combinatietest .............................................................................................................................. 23
NIPT ............................................................................................................................................... 24
SEO ................................................................................................................................................ 29
GUO ............................................................................................................................................... 31
Prenatale diagnostiek ........................................................................................................................ 32
Vlokkentest .................................................................................................................................... 32
, Vruchtwaterpunctie (amniocentese) ............................................................................................ 33
Miskraamrisico bij invasieve diagnostiek ...................................................................................... 33
Aangeboren afwijkingen (genetica) ...................................................................................................... 35
Chromosomale aandoening .............................................................................................................. 35
Downsyndroom; trisomie 21 ......................................................................................................... 35
Syndroom van Turner 45X ............................................................................................................. 37
Syndroom van Patau; trisomie 13 ................................................................................................. 38
Syndroom van Edwards; trisomie 18............................................................................................. 40
Klinefelter, 47 XXY ......................................................................................................................... 41
Mono genetische aandoening ........................................................................................................... 42
Autosomaal-dominant....................................................................................................................... 42
Achondroplasie.............................................................................................................................. 42
Osteogenesis imperfecta ............................................................................................................... 43
Thanatofore dysplasie ................................................................................................................... 45
Craniosynostose Crouzon syndroom ............................................................................................. 46
Dystrofia myotonica .......................................................................................................................... 46
Ziekte van Huntington ................................................................................................................... 48
Autosomaal recessief ........................................................................................................................ 49
Epidermolysis bullosa .................................................................................................................... 49
Adrenogenitaal syndroom ............................................................................................................. 50
Sikkelcel anemie/ziekte ................................................................................................................. 51
Cystenieren.................................................................................................................................... 53
Thalassemie ................................................................................................................................... 55
Cystitische fibrose (CF) .................................................................................................................. 57
Marfan syndroom .......................................................................................................................... 61
X-chromosoom gebonden ................................................................................................................. 62
Fragiele X syndroom ...................................................................................................................... 62
Ziekte van Duchenne ..................................................................................................................... 63
Multifactoriële aandoening ............................................................................................................... 65
Embryologie mond en aangezicht Week 4 – 8 ontwikkeling van het aangezicht. ....................... 65
Spleetvorming (schisis) .................................................................................................................. 68
Talipes equinovarus....................................................................................................................... 71
Hypospadie .................................................................................................................................... 72
Aandoening t.g.v. teratogene effecten ............................................................................................. 73
Foetaal alcoholsyndroom (FAS) ..................................................................................................... 73
Symptomen ................................................................................................................................... 74
, Sequenties ......................................................................................................................................... 75
Pierre-Robinsequentie................................................................................................................... 75
Prevalentie..................................................................................................................................... 75
Pottersequentie............................................................................................................................. 77
VACTERL-associatie ....................................................................................................................... 78
Minor malformaties Micrognatie ..................................................................................................... 79
Ankyloglossie ................................................................................................................................. 80
Farmacologie ..................................................................................................................................... 82
Anti-emetica .................................................................................................................................. 82
Antacida......................................................................................................................................... 83
Laxantia en antidiarrhoica ............................................................................................................. 84
Cholesterolsyntheseremmers ....................................................................................................... 84
Antihistaminica .............................................................................................................................. 85
Corticosteroïden ............................................................................................................................ 85
Tractus digestivus .................................................................................................................................. 87
Embryologie....................................................................................................................................... 87
Wanden van het abdomen ............................................................................................................ 88
Oerdarm ........................................................................................................................................ 89
Anatomie + fysiologie ........................................................................................................................ 93
Mondholte (cavum oris) ................................................................................................................ 93
Keelholte (farynx) .......................................................................................................................... 94
Slokdarm (oesofagus) .................................................................................................................... 94
Maag (ventriculus, gaster) ............................................................................................................. 95
Dunne darm ................................................................................................................................... 96
Dikke darm (colon) ........................................................................................................................ 97
Lever (hepar) ................................................................................................................................. 99
Alvleesklier (pancreas) ................................................................................................................ 102
Galblaas (vesica fellea) ................................................................................................................ 103
Pariëtale en viscerale peritoneum .............................................................................................. 104
Milt .............................................................................................................................................. 104
Tractus digestivus en zwangerschap ............................................................................................... 105
Darmperistaltiek .......................................................................................................................... 105
Hoogstand diafragma .................................................................................................................. 105
Maagzuursecretie ........................................................................................................................ 105
Ptyalisme ..................................................................................................................................... 106
Voedingsleer .................................................................................................................................... 106
