Updated: 12/26/2018

Fluorescence In Situ Hybridization (FISH)

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Overview
  •  Function 
    • detect the presence/location of a specific region of DNA in the genome
  • Process
    • a probe for a desired DNA sequence is created with a fluorescent tag
    • probe is added to DNA sample and color is detected, usually with chromosomes in metaphase (condensed and coiled)
  • Clinical use
    • detect microdeletions, translocations, and aneuploidies
      • similar role to karyotyping however the DNA does not have to be condensed during mitosis to be visualized
      • ex.) a probe for chromosome 7 would only have one signal if the patient had a monosomy as opposed to 2 in a normal sample
      • can also be used to diagnose Prader-Willi syndrome (15q) deletion
 

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