Book summary - chromosomal abnormalities and structural variants

4 important questions on Book summary - chromosomal abnormalities and structural variants

How can you synchronize cells?

Thymidine or bromodeoxyuridine

Comparative genomic hybridization (CGH)?

  • a technique that uses three sets of DNA: test DNA, normal control DNA and collection of known and characterized DNA fragments immobilized on a microarray.  So you can see deletions or duplications.
  • Mixed colours mean there same amount of red and green.
  • If you see the colour of the control DNA you can say that it is not present in the patient and there is a deletion.
  • The results you get is a copy number map

SNP chip/array?

noncompetitive hybridization of just the test
DNA. Deletions and duplications are identified by the differing intensity of hybridization,
compared to probes from normal diploid sequences.
  • Can detect of the copy is neutral or not
  • A miccroarray carrying allele-specific oligonucleotides for genotyping many SNPs in a single operation
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Two categories of chromosomal abnormalities?

  1. numerical (so number of chromosomes)
  2. structural (mutations).

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