Difference between revisions of "Molecular pathology"

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| in situ hybridization (ISH)
| in situ hybridization (ISH)
| good way to find gene losses and duplications (one colour) and gene splits and fusions (two colours); intermediate resolution - better resolution than karyotyping for the specific target of the given ISH
| '''intermediate resolution''' - better resolution than karyotyping for the specific target of the given ISH; good way to find gene losses and duplications (one colour) and gene splits and fusions (two colours); can be done on [[formalin]] fixed paraffin embedded tissue
| target specific (if the target is wrong no information is gained ''or'' one is mislead by the negative result); NOT good for "going on a fishing expedition", i.e. looking for changes when one doesn't quite know what is wrong
| '''target specific''' (if the target is wrong no information is gained ''or'' one is mislead by the negative result); NOT good for "going on a fishing expedition", i.e. looking for changes when one doesn't quite know what is wrong
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| karyotyping
| karyotyping
| finds large scale gains, losses and rearrangements; good for "going on a fishing expedition", i.e. looking for changes when one doesn't quite know what is wrong
| finds '''large scale changes''' (gains, losses, rearrangements); good for "going on a fishing expedition", i.e. looking for changes when one doesn't quite know what is wrong
| low resolution (completely misses small scale changes); requires fresh tissue/cell culture (as it is based on metaphase nuclei)
| '''low resolution''' (completely misses small scale changes); '''requires fresh tissue/cell culture''' (as it is based on metaphase nuclei)
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| PCR + sequencing ''or'' enzyme digestion and electrophoresis
| PCR + sequencing ''or'' enzyme digestion and electrophoresis
| high resolution (can find very small changes, e.g. base pair substitutions); can be done on [[formalin]] fixed paraffin embedded tissue
| '''high resolution''' (can find very small changes, e.g. base pair substitutions) - considered gold standard; can be done on [[formalin]] fixed paraffin embedded tissue
| expensive; thus, limited to small regions; sequencing is the gold standard but very costly; enzyme digestion and electrophoresis is a compromise of sorts where one needs to know something about the expected abnormality
| expensive; thus, limited to small regions ('''target specific'''); enzyme digestion and electrophoresis is a compromise of sorts where one needs to know something about the expected abnormality; (gene) duplications may be difficult to prove; regions with many repeats difficult to sequence
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