Chromosomal Structure and Chromosomal Mutations - Detection of Genome and Chromosomal Mutations
6 important questions on Chromosomal Structure and Chromosomal Mutations - Detection of Genome and Chromosomal Mutations
Wat is een karyotype en karyotypering?
- Een karyotype is de complete set van chromosomen in een cel.
- Karyotypering is de directe observatie van metafase-chromosoomstructuur door metafase-chromosomen op grootte te rangschikken.
Wat is fluorescence In Situ Hybridization (FISH)?
- De probe is een DNA-fragment van 60-200 kb covalent bevestigd aan een fluorescerend molecuul. De probe zal hybridiseren of binden aan zijn complementaire sequenties in het cellulaire DNA.
Wat is het verschil tussen interfase en metafase FISH-analyse?
Metafase FISH: uitgevoerd tijdens de metafase, het stadium vlak voor celdeling. Sterk gecondenseerde chromosomen (zichtbaar als individuele chromosomen onder de microscoop), biedt informatie over de structuur en ordening van chromosomen.
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Waar worden interfase en metafase FISH technieken voor gebruikt?
- Interfase FISH: klinische diagnostiek om chromosoomafwijkingen of specifieke genetische veranderingen te detecteren.
- Metafase FISH: Genoomonderzoek, cytogenetica en prenatale diagnostiek om chromosomale afwijkingen, zoals trisomieën of translocaties, te identificeren.
Wat zijn genetische abnormaliteiten bij interfase FISH met LSI probes?
Wat zijn structurele abnormaliteiten bij interfase FISH met LSI probes?
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