Molecular Detection of Inherited Diseases
4 important questions on Molecular Detection of Inherited Diseases
Wat zijn overervingspatronen van single-gene disorders?
- Gain of function: dominant fenotype
- Loss of function: recessief fenotype
- Dominant negative: loss of function in multimerische eiwitten
Hoe kan Hemachromatosis I worden gebruikt als detectiemethode voor single-gene disorders?
- Met PCR-RFLP
Hoe kan Fragile X syndrome CGG expansie mutatie worden gedetecteerd?
- PCR: premutaties op agarose gel
- Southern Blot: inactieve X in vrouwtjes geknipt door methylatie-specifiek RE.
- PCR & Capillary GE: primers binden binnen CGG-triplet-repeat regio. Drager kan van normaal en syndroom worden onderscheiden.
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Wat zijn voorbeelden van ziekten met ongebruikelijke overervingspatronen, in dit geval genomic imprinting?
- Prader-Willi syndroom & Angelman syndroom: veroorzaakt door een regionale deletie of mutatie in chromosoom 15 (paternaal voor Prader; maternaal voor Angelman).
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