Difference between revisions of "Molecular pathology"

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1,210 bytes added ,  16:57, 10 May 2011
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! Name of technique
! Name of technique
! Key elements
! Key elements
! Type of change
! Type of change detected
! Cost
! Cost
! Other
! Other
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| gel electrophoresis, hybridization probe with label
| gel electrophoresis, hybridization probe with label
| useful for finding a specific known change, quantifying gene copy number
| useful for finding a specific known change, quantifying gene copy number
| $$$
|
|-
| Amplification-refractory mutation system (ARMS)
| PCR with mutation-specific primer, gel electrophoresis
| useful for finding a specific known change
| $$
| primers can be thought of as a hybridization probe; no mutation-specific hybridization (of primer) --> no PCR product
|}
A comparison of ISH and karyotyping:
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
! Name of technique
! Key elements
! Type of change detected
! Cost
! Other
|-
| ISH break apart probe
| probes label two parts of a (normal) gene; the two markers straddle (common) break points
| gene fragmentation consistent with translocation; one may find: loss of part of the gene, gene duplication
| $$$
| can detect translocations - without knowing the specific fusion product
|-
| ISH fusion probe
| probes label different genes (that are not adjacent)
| translocation involving the two genes labeled; one may find: gene duplication, loss of a gene)
| $$$
| can detect one specific translocation
|-
| ISH one colour
| probe label one region (gene)
| gene duplication, loss of a gene
| $$$
|
|-
| Karyotyping
| metaphase nuclei
| large scale changes (fusions, deletions, translocations)
| $$$
| $$$
|  
|  
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