Table 2. Types of probes and FISH-techniques used in routine molecular cytogenetic analyses
Source of probe
Purified chromosomes
Purified chromosome regions
(e.g. armsor chromosome bands)
Type of probe
Flow-sorted
Microdissected
Size of probetarget
> 1Mb
FISH technique
Whole chromosome
painting (forward and
reverse painting) Armspecific painting FISHmulticolor banding
24-color karyotyping
ZOO-FISH
Types
of chromosomal aberrations identified
• Translocations
(simple
or complex)
• Marker/ring chromosome
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Cloned genes or DNA sequences
YACs, PACs,
<1 Mb
Locus-specific, e.g. single
• Microdeletions
BACs
genes or gene family
• Amplifications
centromeric sequences
• Numerical abnormalities
telomeric and sub-te1omeric
sequences
Cosmids
<0.1
Mb
Phages
<0.05 Mb
Plasmids
<0.01 Mb
RNA probes
<0.01 Mb
Expression
Synthetic
DNA Synthetic analogs
Oligonucleotides < 0.10 kb
Primed in situ labeling
• Numerical abnormalities
PNA &
LNA
(PRINS), e.g. centromeric
• Terminal segment anosomy
or telomeric DNA
Purified DNA from cells
Genomic DNA
> 1 Gb
Comparative genomic
• Amplifications
hybridization (CGH)
• Deletions