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Samenvatting Moleculaire genetica
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Samenvatting Moleculaire Genetica van P. Voet.
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Moleculaire gene-ca 2023-2024 ....................................................................................... 12Hoofdstuk 2: fundamentals of cells and chromosomes .............................................................. 12
2.1 cell structure and diversity, and cell evolu4on ............................................................................... 12
Celprolifera.e à omvat afwisselende rondes van celdeling en celgroei ............................................... 12
Cel = de eenheid van biologie ................................................................................................................. 12
Symmetrische celdeling = dochtercellen zijn hetzelfde .......................................................................... 12
Asymmetrische celdeling = dochtercellen zijn verschillend (bv in grooAe / func.e) .............................. 12
prokaryoten en eukaryoten vertegenwoordigen een fundamentele verdeling van cellulaire
levensvormen.......................................................................................................................................... 13
intracellulaire organisa.e in dierlijke cellen............................................................................................ 13
Structuren die het genoom van dierlijke cellen bevaAen ....................................................................... 16
Celdiversiteit in het lichaam .................................................................................................................... 17
Celfusie door celopname leidt meestal tot fagocytose, maar een zeldzaam alterna.ef is coöpera.eve
symbiose ................................................................................................................................................. 17
Een belangrijke stap in de evolu.e van eukaryoten was een endosymbio.sche gebeurtenis waarbij een
complexe anaërobe archeon een aërobe a-proteobacterium opnam ................................................... 17
De cruciale ontwikkeling van mul.cellulaire organismen kan zijn ontstaan door eenvoudige
genmuta.es ............................................................................................................................................ 19
2.2 DNA and chromosome copy number during the cell cycle ..................................................................... 19
Enkele karakteris.eken van het DNA in een soma.sche menselijke cel: ................................................ 19
Verschillende cellen binnen een persoon tonen verschillen in ploïdie ................................................... 19
Verdubbeling van het aantal chromosomen en de DNA inhoud voorafgaande aan de mitose .jdens de
celcyclus .................................................................................................................................................. 20
2.3 cell division and transmission of DNA to daughter cells ........................................................................ 21
Mitose (nucleaire divisie) en cytokinese (celdeling) ............................................................................... 21
Moleculaire lijm tussen gerepliceerd DNA = cohesine complex ............................................................. 22
Spindle assembly checkpoint .................................................................................................................. 23
De menselijke levenscyclus, gezien vanuit een chromosomale invalshoek ............................................ 24
Meiosis to reduce.................................................................................................................................... 25
De vijf stadia gedurende de profase van meiose I .................................................................................. 28
Homologe recombina.e ......................................................................................................................... 30
Van metafase I tot gameten .................................................................................................................... 31
Bron van gene.sche diversiteit: independent assortment + homologe recombina.e ........................... 32
Overzicht van gametogenese in ovarium en tes.s.................................................................................. 32
Mitose en meiose: overeenkomsten en verschillen ................................................................................ 33
1
, Mitochondriale DNA replica.e en segrega.e ......................................................................................... 33
2.4 structure and func7on of chromosomes .............................................................................. 34
Chromosomen hebben 2 func.es ........................................................................................................... 34
Chromosomaal DNA wordt gecompacteerd door coiling dat begint met binding van histoneiwiAen om
nucleosomen te vormen (= eenheid van chroma.ne) ............................................................................ 34
DNA condensa.e .................................................................................................................................... 35
Aminozuren van histonstaarten kunnen post-transla.onele modifica.es ondergaan ........................... 35
Euchroma.ne, heterochroma.ne en de variabele mate van compac.e van interfase-chroma.ne ...... 36
Elk chromosoom hee` zijn eigen territorium in de interfase-kern ......................................................... 37
Om een chromosoom nauwkeurig te kunnen kopiëren en segregeren naar dochtercellen, zijn er 3
soorten structurele elementen nodig: .................................................................................................... 37
Componenten van de mito.sche spoelvorm en de centromeer ............................................................ 38
Alpha-satelliet DNA is niet voldoende en niet noodzakelijk voor centromeerfunc.e ............................ 39
Hoofdstuk 5: pa;erns of inheritance ......................................................................................... 42
1. Monogenic versus mul.factorial inheritance ..................................................................................... 42
Defini.es ................................................................................................................................................. 42
Genotype – fenotype .............................................................................................................................. 42
Mendeliaanse kenmerken....................................................................................................................... 43
Niet-Mendeliaanse kenmerken (mul.factorieel) .................................................................................... 43
2. Mendelian pedigree paAerns ............................................................................................................. 45
Basis Mendeliaanse overvingspatronen ................................................................................................. 45
X-inac.va.e of lyoniza.e ........................................................................................................................ 49
Duchenne muscular dystrophy (DMD) .................................................................................................... 51
Barr lichaam of seks chroma.ne ............................................................................................................. 51
X-inac.va.e – skewing kan ontstaan ...................................................................................................... 51
Een aantal genen ontsnappen aan X-inac.va.e ..................................................................................... 52
X – gebonden overervingspatronen ........................................................................................................ 53
De wijze van overerving of mode of inheritance kan zelden ondubbelzinnig worden gedefinieerd ...... 56
Rela.e tussen Mendeliaanse fenotypes en genen : geen eenvoudige 1 op 1 correla.e ........................ 56
Co – dominant / semi-dominant ............................................................................................................. 56
Verschillende complica.es maskeren vaak een basis Mendeliaans overervingspatroon ....................... 57
Lee`ijdsafankelijke penetra.e in late-onset ziekten ............................................................................ 57
An.cipa.e <> valse an.cipa.e ............................................................................................................... 58
Mannelijke lethaliteit kan de interpreta.e van stambomen met X-gebonden aandoeningen
compliceren ............................................................................................................................................ 59
Inteelt kan stamboom interpreta.e compliceren ................................................................................... 59
Metabolische interferen.e ..................................................................................................................... 60
2
, De klassieke Mendeliaanse overervingspatronen worden het best geobserveerd met zeldzame
aandoeningen ......................................................................................................................................... 60
Imprin.ng: expressie is afankelijk van de parentale oorsprong ............................................................ 60
Imprin.ng: twee mechanismes............................................................................................................... 62
E.ologie Prader-Wili versus Angelman syndroom .................................................................................. 63
Imprin.ng: expressie is afankelijk van de parentale oorsprong ............................................................ 65
Waarom genomische imprin.ng ............................................................................................................. 66
Complete hyda.diform moles................................................................................................................. 66
3. Mosaicism and new muta.ons .......................................................................................................... 66
Een cons.tu.eve afwijking is aanwezig in alle cellen van het individu................................................... 66
Mozaïcisme ............................................................................................................................................. 67
Chimera ................................................................................................................................................... 69
Nieuwe muta.es compliceren stamboom interpreta.e ......................................................................... 70
Nieuwe muta.es compliceren stamboom interpreta.e ......................................................................... 70
Detec.e van mozaïcisme ........................................................................................................................ 71
4. NON-Mendelian characters ................................................................................................................ 72
Begin 20ste eeuw was er conversie tussen voorstanders van Mendeliaanse en kwan.ta.eve modellen
van overerving ........................................................................................................................................ 72
Polygen theorie ....................................................................................................................................... 72
Regressie naar het gemiddelde van een kenmerk .................................................................................. 73
Heritabiliteit ............................................................................................................................................ 74
Heritabiliteit ¹ mode of inheritance ....................................................................................................... 75
Het drempelmodel breidde de polygen theorie uit om niet-mendeliaanse dichotome karakters te
kunnen verklaren .................................................................................................................................... 75
In tegenstelling tot de Mendeliaanse condi.es, is het risico van herhaling van polygene aandoeningen
afankelijk van de voorgeschiedenis....................................................................................................... 76
Polygene dichotrome kenmerken met seks-specifieke drempels ........................................................... 76
Gene.sche counseling voor niet-mendeliaanse kenmerken wordt gebaseerd op empirisch vastgestelde
risico’s ..................................................................................................................................................... 77
Hoofdstuk 6: Core DNA technologies: amplifying DNA,nucleic acid hybridiza7on, and DNA
sequencing ................................................................................................................................ 78
6.1 DNA kloneren in bacteriële cellen ......................................................................................................... 78
DNA – klonering = maken van iden.eke kopiën (klonen) van een DNA-molecuul mbv polymerase voor
DNA-replica.e ......................................................................................................................................... 78
Middelen vreemd DNA vector koppelen en transformeren naar gastheercel ........................................ 80
Screening om getransformeerd cellen te iden.ficeren........................................................................... 81
2 situa.es ................................................................................................................................................ 82
DNA-kloonbibliotheken ........................................................................................................................... 83
3
, induceerbare bacteriële vectoren ........................................................................................................... 83
Bacteriele fusie – proteïnen .................................................................................................................... 85
6.2 DNA Amplificeren via in vitro DNA replica.e ......................................................................................... 86
Polymerase chain reac.on (PCR) ............................................................................................................ 86
RT – PCR .................................................................................................................................................. 87
Real.me PCR ........................................................................................................................................... 87
Niet selec.eve amplifica.e ..................................................................................................................... 87
6.3 Hybridisa.e ............................................................................................................................................ 89
Denatura.e en hybridisa.e..................................................................................................................... 90
Toepassingen van hybridisa.e ................................................................................................................ 90
Hybridisa.e – assays ............................................................................................................................... 90
Aanmaak probes ..................................................................................................................................... 91
Verschillende merkers ............................................................................................................................. 93
Lage hybridisa.e stringen.e ................................................................................................................... 94
Hoge hybridisa.e stringen.e .................................................................................................................. 94
2 klassen van hybridisa.etesten ............................................................................................................. 95
Klasse 1: standaard assay ........................................................................................................................ 95
Klasse 2: reversed assay .......................................................................................................................... 96
Southern Blot .......................................................................................................................................... 97
Northern blot .......................................................................................................................................... 97
Selec.eve opzuivering van DNA moleculen ............................................................................................ 98
6.4 DNA sequencing principes en sanger sequencing ................................................................................. 99
Basisprincipes van Sanger-dideoxy DNA sequencing .............................................................................. 99
Technieken scheiden DNA fragmenten ................................................................................................... 99
6.5 Next-genera.on sequencing ................................................................................................................ 100
DNA – bibliotheek aanmaken ............................................................................................................... 101
Bridge amplifica.e (cluster) .................................................................................................................. 102
Sequencing bij synthesis proces ............................................................................................................ 103
Detec.e van SNPs, Base muta.es ......................................................................................................... 105
DNA kopijaantal varianten (copy number varia.es) ............................................................................. 105
Paired – end and mate – pair sequences .............................................................................................. 109
Paired-end-sequencing ......................................................................................................................... 109
aligning short sequence reads to a reference sequence ....................................................................... 110
sequen.e doorvoer en read lengtes voor enkele gangbare massaal – parallele DNA sequencing
plaoormen ............................................................................................................................................ 111
Toepassingen next-genera.on sequencing of massively parallel sequencing....................................... 111
Hoofdstuk 7: analyzing the structure and expression of genes and genomes ........................... 113
1. Genome structure analysis and genome projects ............................................................................ 113
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