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Samenvatting: ziektes, technieken en overerving

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Samenvatting van overerving --> mendeliaans/niet mendeliaans/ andere technieken van detectie --> oa microassay, NGS, ... ziektes --> oa huntington , rett syndroom, muco,...

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  • January 26, 2017
  • 18
  • 2016/2017
  • Summary
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Biomedische wetenschappen
Humane Genetica


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Ziektes .............................................................................................................. 3
Marfan syndroom ............................................................................................... 3
Rood groen blindheid .......................................................................................... 3
Mucoviscidose ................................................................................................... 3
Charcot-Marie-Tooth ........................................................................................... 3
Hereditaire drukneuropathie (HNPP)........................................................................ 3
CML – chronische myeloïde leukemie ....................................................................... 4
Ziekte van Crohn ............................................................................................... 4
AMD- leeftijdsgebonden maculaire degeneratie .......................................................... 4
Duchenne en Becker musculaire dystrofie ................................................................. 4
Ziekte van Steinert ............................................................................................. 4
Hereditaire haemochromatosis (HH) ........................................................................ 4
Fragile X syndrome ............................................................................................. 5
Huntington disease ............................................................................................. 5
Achondroplasie.................................................................................................. 6
Hemofilie A ...................................................................................................... 6
Rett syndroom .................................................................................................. 6
Retinoblastoom ................................................................................................. 6
Retinitis pigmentosa ........................................................................................... 7
Prader-willie en angelman syndroom (zie ziektes) ...................................................... 7
Onderzoekstechnieken ........................................................................................... 7
Moleculaire pathologie ........................................................................................ 7
Mutatie onderzoek monogenische aandoening – 1 gen ................................................ 7
Mutatie onderzoek monogenische aandoening – meerdere genen ................................... 8
Cytogenetica- cytogenomica ................................................................................. 8
Array CHG ..................................................................................................... 8
Moleculair genetisch onderzoek ............................................................................. 8
PCR ............................................................................................................. 8
Mutatie scanning ............................................................................................. 9
DNA sequenering via Sanger............................................................................. 9
Detectie heteroduplexen via HA, dHPLC, DGGE, HRM .............................................. 9
HA – heteroduplex analyse........................................................................... 10
DGGE – denaturerende gradiënt analyse .......................................................... 10
dHPLC- denaturing high pressure liquid chromatography ...................................... 10
HRMCA- high resolution melting curve analysis .................................................. 10



AD*= autosomaal dominant AR**= autosomaal recessief XL***= X-linked

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