6 In Situ Hybridization for DNA: Fluorescent Probe
67
can also be applied to fetal blood cells by cord-centesis, and in
the near future it will be applied to fetal cells in maternal blood.
Postnatal genetic diagnosis is performed by the application of
FISH to the nuclei of peripheral blood cells.
FISH using the chromosome-specific probes of chromosomes
13, 18, 2l, X, and Y detects the majority of trisomies and monosomles.
Microdeletions, such as Prader-Willi/Angelman, DiGeorgel
VCFS regions, are small deletions of genes or regions that are
difficult to identify by karyotyping. Using probes for these genes
or regions, FISH can detect whether or not these microdeletions
are present.
Development of a CGH application to a single cell is useful for
cytogenetic analysis.
Oncology
Many genetic changes underlie the development and progression of tumors.
• Chromosomal numerical aberrations are frequently observed
during the development of tumors, and some of them contribute to tumor progression while others cause genetic instability in tumor cells. Chromosomal numerical aberrations may
be easily detected in precancerous and malignant lesions by
FISH using chromosome-specific probes in interphase cells or
tissue sections.
• FISH can identify the morphologically normal leukemic cells
after anti-leukemic therapy, since leukemic cells show signs of
aneusomy. The technique may be applied to determine
whether bone marrow transplantation was successful, by
identifying the blood cells in a female patient originated
from male donor.
• Translocations, such as Philadelphia chromosome, t(12;21),
etc., can be detected in interphase nuclei by dual-color
FISH using the probes for one or more whole chromosomes
or chromosomal segments.
• Deletion of tumor suppressor genes, such as p53 and Rb etc.,
or amplification of oncogenes, such as c-myc and HER-2/neu
67
can also be applied to fetal blood cells by cord-centesis, and in
the near future it will be applied to fetal cells in maternal blood.
Postnatal genetic diagnosis is performed by the application of
FISH to the nuclei of peripheral blood cells.
FISH using the chromosome-specific probes of chromosomes
13, 18, 2l, X, and Y detects the majority of trisomies and monosomles.
Microdeletions, such as Prader-Willi/Angelman, DiGeorgel
VCFS regions, are small deletions of genes or regions that are
difficult to identify by karyotyping. Using probes for these genes
or regions, FISH can detect whether or not these microdeletions
are present.
Development of a CGH application to a single cell is useful for
cytogenetic analysis.
Oncology
Many genetic changes underlie the development and progression of tumors.
• Chromosomal numerical aberrations are frequently observed
during the development of tumors, and some of them contribute to tumor progression while others cause genetic instability in tumor cells. Chromosomal numerical aberrations may
be easily detected in precancerous and malignant lesions by
FISH using chromosome-specific probes in interphase cells or
tissue sections.
• FISH can identify the morphologically normal leukemic cells
after anti-leukemic therapy, since leukemic cells show signs of
aneusomy. The technique may be applied to determine
whether bone marrow transplantation was successful, by
identifying the blood cells in a female patient originated
from male donor.
• Translocations, such as Philadelphia chromosome, t(12;21),
etc., can be detected in interphase nuclei by dual-color
FISH using the probes for one or more whole chromosomes
or chromosomal segments.
• Deletion of tumor suppressor genes, such as p53 and Rb etc.,
or amplification of oncogenes, such as c-myc and HER-2/neu