100% satisfaction guarantee Immediately available after payment Both online and in PDF No strings attached
logo-home
Samenvatting Moleculaire genetica $10.87   Add to cart

Summary

Samenvatting Moleculaire genetica

 20 views  0 purchase
  • Course
  • Institution

Samenvatting van het van 'Moleculaire Genetica' in het jaar . In deze samenvatting staat alles beschreven dat door de docent als belangrijk of interessant is omschreven. Dit is geschreven door het jaar door om zeker alles aan te duiden

Last document update: 2 year ago

Preview 10 out of 74  pages

  • May 27, 2022
  • June 13, 2022
  • 74
  • 2021/2022
  • Summary
avatar-seller
Samenvatting Moleculaire genetica
Inhoud
Les 1: Erfelijk materiaal ........................................................................................................................... 9
DNA...................................................................................................................................................... 9
Chromosomen ................................................................................................................................. 9
Karyogram vd mens ......................................................................................................................... 9
Bouwstenen..................................................................................................................................... 9
Structuur ........................................................................................................................................ 10
Humaan DNA ..................................................................................................................................... 10
Uniek DNA (50%) ........................................................................................................................... 10
Repetitief DNA (50%) => satelliet .................................................................................................. 10
Verandering op de genen (Rep. DNA) ........................................................................................... 10
Samenstelling ................................................................................................................................ 11
Satelliet DNA.................................................................................................................................. 11
Waar zit DNA ..................................................................................................................................... 12
Chromosomaal DNA ...................................................................................................................... 12
Extrachromosomaal DNA: circulair ............................................................................................... 12
Mitochondriaal DNA ...................................................................................................................... 12
Les 2: Van gen naar eiwit: transcriptie .................................................................................................. 13
Inleiding ............................................................................................................................................. 13
Soorten EW........................................................................................................................................ 13
Structurele EW .............................................................................................................................. 13
Transport-EW ................................................................................................................................ 14
Bewegings-EW ............................................................................................................................... 14
Reserve-EW ................................................................................................................................... 14
Signaal- en receptor-EW ................................................................................................................ 14
Gen-regulatorische EW ................................................................................................................. 14
Beschermende EW ........................................................................................................................ 14
Het dogma van Crick ......................................................................................................................... 14
Structuur van RNA ............................................................................................................................. 15
Soorten RNA .................................................................................................................................. 15
Verschil DNA en RNA ..................................................................................................................... 15
Eukaryote genen............................................................................................................................ 15
Polymerase II genen! ..................................................................................................................... 16

1

, Structuur van een gen ....................................................................................................................... 16
Transcriptie........................................................................................................................................ 17
Transcriptiefactoren ...................................................................................................................... 17
Structuur van mRNA .......................................................................................................................... 17
PTM 1 = post transcriptionele modificatie 1 ..................................................................................... 18
Cap structuur ................................................................................................................................. 18
Spliceosoom .................................................................................................................................. 18
Alternatieve splitsing ..................................................................................................................... 18
Les 3: De weg van gen naar EW 2 .......................................................................................................... 19
Genetische code ................................................................................................................................ 19
Translatie ........................................................................................................................................... 20
tRNA............................................................................................................................................... 20
Ribosomen ..................................................................................................................................... 20
Fasen van de translatie.................................................................................................................. 21
Groeiende polypeptideketen ........................................................................................................ 22
Transcriptie en translatie in prokaryoten en eukaryoten ............................................................. 22
PTM 2 = post translationele modificatie 2 ........................................................................................ 22
Gesecreteerde EW......................................................................................................................... 22
Glycosylatie ................................................................................................................................... 23
Fosforylatie .................................................................................................................................... 23
Acetylering..................................................................................................................................... 23
Hydroxylatie van proline ............................................................................................................... 24
Partiële proteolyse ........................................................................................................................ 24
Soorten proteasen ......................................................................................................................... 24
PTM 1 vs. PTM 2 ................................................................................................................................ 24
LES 4: Regulatie van genexpressie......................................................................................................... 25
Inleiding ............................................................................................................................................. 25
Regulatie van eiwitsynthese .............................................................................................................. 25
Voorbeelden EUK-genregulatie: .................................................................................................... 26
Epigenetica ........................................................................................................................................ 27
Mechanismen ................................................................................................................................ 28
DNA methylatie: ................................................................................................................................ 28
Overerving: .................................................................................................................................... 28
Genomische inprinting: ................................................................................................................. 28
Histonmodificatie .............................................................................................................................. 29
RNA interferentie .............................................................................................................................. 29

2

, Pathway ......................................................................................................................................... 30
Dicer: ............................................................................................................................................. 30
Sequentie specifieke mRNA degradatie: ....................................................................................... 30
miRNA: ........................................................................................................................................... 30
LES 5: Celdeling en overerving van het geslacht ................................................................................... 31
Inleiding ............................................................................................................................................. 31
De celcyclus ....................................................................................................................................... 31
G1: werkingsfase ........................................................................................................................... 31
S: synthese ..................................................................................................................................... 31
G2: laatste controle voor deling .................................................................................................... 32
M: delingsfase ............................................................................................................................... 32
Replicatie ........................................................................................................................................... 32
Replicatievork ................................................................................................................................ 32
Proof reading ................................................................................................................................. 33
Leading en lagging streng synthese............................................................................................... 33
Verlies van DNA ............................................................................................................................. 34
Werking telomerase ...................................................................................................................... 34
Soort deling ....................................................................................................................................... 34
Mitose............................................................................................................................................ 34
Meiose ........................................................................................................................................... 35
Herverdeling van het erfelijk materiaal............................................................................................. 35
Crossing over ................................................................................................................................. 35
Segregatie ...................................................................................................................................... 36
De voortplantingscellen/ gameten.................................................................................................... 36
De man: ......................................................................................................................................... 36
De vrouw: ...................................................................................................................................... 37
Geslachtsbepaling bij bevruchting ................................................................................................ 37
Sexratio .......................................................................................................................................... 37
Y-chromosoom .............................................................................................................................. 38
X-chromosoom .............................................................................................................................. 38
LES 6: Mutaties ...................................................................................................................................... 39
Puntmutaties ..................................................................................................................................... 39
Sikkelcelanemie: ............................................................................................................................ 39
Voorkomen mutaties..................................................................................................................... 40
Micro-deleties en –inserties .............................................................................................................. 40
Trinucleotide repeat amplificaties (dynamische mutaties)............................................................... 40

3

, Mutaties die de transcriptie of mRNA processing verstoren ............................................................ 41
Lengtemutaties.................................................................................................................................. 42
Soorten .......................................................................................................................................... 42
Ongelijke recombinatie ................................................................................................................. 42
Translocaties.................................................................................................................................. 42
Transpositie ................................................................................................................................... 42
Oorzaken en gevolgen mutaties........................................................................................................ 43
Oorzaken spontane mutaties ........................................................................................................ 43
Externe invloeden door mutagenen.............................................................................................. 43
Gevolgen mutaties ........................................................................................................................ 43
LES 7: Monogene overerving ................................................................................................................. 44
Inleiding ............................................................................................................................................. 44
Kruiswetten van Mendel ............................................................................................................... 44
Basisbegrippen .................................................................................................................................. 45
Genotype en fenotype: ................................................................................................................. 45
Variabiliteit .................................................................................................................................... 45
Genotype naar fenotype ............................................................................................................... 45
Ontstaan ziekten ............................................................................................................................... 45
Recessieve ziekten ......................................................................................................................... 45
Dominante ziekten ........................................................................................................................ 45
Stamboom ......................................................................................................................................... 46
Autosomale overerving ..................................................................................................................... 46
Recessieve aandoeningen ............................................................................................................. 46
Dominante aandoeningen ............................................................................................................. 46
Partiële dominantie ....................................................................................................................... 47
Codominantie bij ABO bloedgroep................................................................................................ 47
LES 8: Geslachtsgebonden overerving .................................................................................................. 47
Geslachtsgebonden kenmerken ........................................................................................................ 47
X-gebonden recessieve aandoeningen ............................................................................................. 47
Stamboom ..................................................................................................................................... 47
Hemofilie/ bloederziekte............................................................................................................... 48
Duchenne(DMD) ............................................................................................................................ 48
Becker(BMD) ................................................................................................................................. 48
Fragiele X-syndroom...................................................................................................................... 48
Daltonisme .................................................................................................................................... 48
Syndroom van Lesch-Nyhan .......................................................................................................... 48

4

, Variaties in G6PDH ........................................................................................................................ 48
X-gebonden dominante aandoeningen............................................................................................. 48
Stamboom ..................................................................................................................................... 49
Syndroom van Rett (RTT)............................................................................................................... 49
Het Y-chromosoom............................................................................................................................ 49
Overerving ..................................................................................................................................... 49
Stamboom ..................................................................................................................................... 49
Mitochondriale overerving ................................................................................................................ 49
Kenmerken .................................................................................................................................... 49
Stamboom ..................................................................................................................................... 49
LES 9 : Multifactoriële overerving ......................................................................................................... 50
Inleiding ............................................................................................................................................. 50
Beïnvloeding door meerdere genen.................................................................................................. 50
Additieve polygenie ....................................................................................................................... 50
Drempel polygenie ........................................................................................................................ 50
Epistase en hypostase ................................................................................................................... 50
Beïnvloeding vanuit de omgeving ..................................................................................................... 51
Complicerende processen ................................................................................................................. 51
Locus heterogeniteit...................................................................................................................... 51
Pleiotropie ..................................................................................................................................... 51
Penetrantie en expressiviteit ........................................................................................................ 51
Mozaïken ....................................................................................................................................... 51
Genetische anticipatie ................................................................................................................... 52
Epi genetische invloeden( zie Epigenetica) ................................................................................... 52
LES 10: chromosomale afwijkingen ....................................................................................................... 52
Inleiding ............................................................................................................................................. 52
Polyploïdie ......................................................................................................................................... 52
Mono-en trisomiën ........................................................................................................................... 53
Aneuploïdie ................................................................................................................................... 53
Vorming mozaïeken....................................................................................................................... 53
Geslachtschromosale trisomiëen .................................................................................................. 53
Structurele chromosoomafwijkingen ................................................................................................ 54
Niet-gebalanceerde herschikking .................................................................................................. 54
Gebalanceerde herschikking ......................................................................................................... 54
LES 11: Overerving van gekoppelde genen ........................................................................................... 55
Gekoppelde genen ............................................................................................................................ 55

5

, Eerste proeven van Morgan .......................................................................................................... 55
Terugkruising ................................................................................................................................. 55
Crossing-over ..................................................................................................................................... 56
Chromosomenkaart....................................................................................................................... 56
Dubbele crossing-over ................................................................................................................... 56
Driepuntskruisingen ...................................................................................................................... 56
LOD-score (examenvraag) ................................................................................................................. 57
Recombinatiefequentie ................................................................................................................. 57
Hypotetische LOD-score ................................................................................................................ 57
HapMap project................................................................................................................................. 57
LES 12: Populatiegenetica ..................................................................................................................... 57
Bevolking ........................................................................................................................................... 57
Formule van Hardy-Weinberg ........................................................................................................... 57
Allelenfrequentie op een bepaald moment .................................................................................. 58
De genotypenfrequentie ............................................................................................................... 58
Besluit ............................................................................................................................................ 58
Voorwaarden ................................................................................................................................. 58
Consanguiniteit of bloedverwantschap............................................................................................. 58
Verwantschapscoëfficiënt r ........................................................................................................... 58
Inteeltcoëfficiënt F ........................................................................................................................ 58
Voorbeeld ...................................................................................................................................... 58
LES 13: Analysemethoden voor nucleïnezuren ..................................................................................... 59
DNA en RNA isolatie .......................................................................................................................... 59
DNA isolatie ................................................................................................................................... 59
mRNA isolatie ................................................................................................................................ 59
Elektroforese ..................................................................................................................................... 59
Gel-elektroforese........................................................................................................................... 59
Hybridisatie ....................................................................................................................................... 60
FISH ................................................................................................................................................ 60
DNA probes ................................................................................................................................... 60
Proces ............................................................................................................................................ 60
Methoden ...................................................................................................................................... 61
Southern Blotting .......................................................................................................................... 61
DNA sequencing ................................................................................................................................ 61
LES 14: Amplificatie van erfelijk materiaal ............................................................................................ 62
Wat is PCR?........................................................................................................................................ 62

6

, Principe .............................................................................................................................................. 62
RNA als target ................................................................................................................................ 62
PCR-cyclus.......................................................................................................................................... 62
Denaturatie.................................................................................................................................... 62
Annealing ....................................................................................................................................... 62
Elongatie ........................................................................................................................................ 62
Componenten .................................................................................................................................... 63
Primers .......................................................................................................................................... 63
dNTP’s ............................................................................................................................................ 63
Buffer ............................................................................................................................................. 63
Taq DNA-polymerase..................................................................................................................... 63
Optimalisatie en risico PCR................................................................................................................ 63
Voorkomen ‘False annealing’ ............................................................................................................ 64
Nested ‘primer’ PCR ...................................................................................................................... 64
‘Hot-start’ PCR ............................................................................................................................... 64
‘Touch-down’ PCR ......................................................................................................................... 64
‘Time release’ PCR ......................................................................................................................... 64
LES 15: PCR varianten ............................................................................................................................ 65
PCR-RFLP............................................................................................................................................ 65
RT-PCR: mRNA detectie ..................................................................................................................... 65
Multiplex PCR .................................................................................................................................... 65
Interrepeat PCR: DNA fingerprinting ............................................................................................. 65
Repeat-PCR ........................................................................................................................................ 66
Capillaire elektroforese ................................................................................................................. 66
Analyse cap elektroforese ............................................................................................................. 66
Kwantitatieve fluorescentie PCR/QF PCR .......................................................................................... 67
Allel-specifieke amplificatie............................................................................................................... 67
LES 16: Kwantitatieve PCR/ real time PCR............................................................................................. 68
Principe .............................................................................................................................................. 68
Klassieke kwantificatie PCR product ............................................................................................. 68
Geen agarose gel ........................................................................................................................... 68
Detectiemethoden ............................................................................................................................ 68
SYBR GREEN ................................................................................................................................... 68
Förster Resonance Energy Transfer .............................................................................................. 68
FRET-technologie ............................................................................................................................... 69
Hydrolyse probe ........................................................................................................................... 69

7

, Molecular beacons ........................................................................................................................ 69
Scorpions ....................................................................................................................................... 69
Dual-probes ................................................................................................................................... 69
Kwantificatie ...................................................................................................................................... 70
Dynamisch bereik .......................................................................................................................... 70
Smeltcurve analyse............................................................................................................................ 70
Afgeleide curve .............................................................................................................................. 70
LES 16a: Digital Droplet PCR .................................................................................................................. 71
Principe .............................................................................................................................................. 71
Verdeling ....................................................................................................................................... 71
Workflow ........................................................................................................................................... 71
Staalvoorbereiding ........................................................................................................................ 71
Vorming druppels .......................................................................................................................... 71
Verdeling target over druppels ..................................................................................................... 72
PCR................................................................................................................................................. 72
Hydrolyse probes........................................................................................................................... 72
Detectie ......................................................................................................................................... 72
Voordelen .......................................................................................................................................... 73
Hoge gevoeligheid ......................................................................................................................... 73
Belang concentratie....................................................................................................................... 73
Robuust en reproduceerbaar ........................................................................................................ 73
Poisson correctie ............................................................................................................................... 73
Toepassingen ..................................................................................................................................... 74
Niet invasieve opvolging kankerpatiënt ........................................................................................ 74




8

,Les 1: Erfelijk materiaal
DNA
Chromosomen
• Mens heeft 46 chromosomen of 23paar chromosomen
• Elke stuk chromosomen bevat genen => in totaal 25 000
• (Zoals getoond komt DNA enkel voor bij het delen van de cel)
• Bestaat uit 2 chromatinen verbonden bij de centromeer
• Telomeer: uiteinde chromatine
• DNA omheen histone-EW (positief geladen)

Karyogram vd mens
• 46 chromosomen: 2 set van 23 verschillende exemplaren
o 44 autosomen + 2 geslachtschromosomen




• Ordeningscriteria: obv de lengte van de chromosomen
o P: korte arm; Q lange arm

• Bandenpatroon
o Heterochromatine: donkere zone; inactief DNA
o Euchromatine: lichtere zone
o Bandnummers: vb 7q21




Bouwstenen
Fosfo-ester binding


Beta-glycosidische binding

Fosfo-anhydride binding

• Nucleotine:

9

, • 4 mogelijke base: adenine, guanine, cytosine, thymine




• Fosfo-diësterbinding

Structuur
• Altijd van 5’ naar 3’!
• Baseparen
o A en T: 2H-bruggen
o C en G: 3H-bruggen
• Secundaire structuur
o Rechtsdraaiende alfa-helix
o Bèta-vlakken
• Tertiaire structuur: nucleosomen

Humaan DNA
• 23 chromosomen (verschillende) = n = haploïde aantal
• 3 miljard basenparen
• 2% = genen → 25.000 eiwitten (ORFs/OpenReadingFrame)
• Genen: intronen/exonen (prokaryoten: continu)
• 98% = ‘junk’

Uniek DNA (50%)
• Genen
• Niet-gen sequenties met eenmalig voorkomen
• Pseudo-genen

Repetitief DNA (50%) => satelliet
• Micro-satelliet (STR) = Short Tandem Repeats
o vb. (CA)n of triplet repeats (2-10)
• Mini-satelliet (VNTR) = Variable Number of Tandem Repeats
o groter (10-60), minder aantal keren, 1 plaats
• Macro-satelliet = ‘elementen’
o groot (200-1500), vele plaatsen, 1 maal
o SINE = short interspresed nuclear elements (gemiddeld 300 bp), meest voorkomend
=Alu repeat
o LINE = Long interspresed nuclear elements (gemiddeld 800 bp), meest voorkomend
=LINE-1

Verandering op de genen (Rep. DNA)
• SNP = single nucleotide polymorfisme
o heel groot aandeel id bevolking, niet schadelijk
• Mutatie = 1-2% vd bevolking, meestal iets schadelijk


10

The benefits of buying summaries with Stuvia:

Guaranteed quality through customer reviews

Guaranteed quality through customer reviews

Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.

Quick and easy check-out

Quick and easy check-out

You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.

Focus on what matters

Focus on what matters

Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!

Frequently asked questions

What do I get when I buy this document?

You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.

Satisfaction guarantee: how does it work?

Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.

Who am I buying these notes from?

Stuvia is a marketplace, so you are not buying this document from us, but from seller arnevanhoudt. Stuvia facilitates payment to the seller.

Will I be stuck with a subscription?

No, you only buy these notes for $10.87. You're not tied to anything after your purchase.

Can Stuvia be trusted?

4.6 stars on Google & Trustpilot (+1000 reviews)

62555 documents were sold in the last 30 days

Founded in 2010, the go-to place to buy study notes for 14 years now

Start selling
$10.87
  • (0)
  Add to cart