Chapter 1
FISH Techniques, FISH Probes and Their Applications
in Medicine and Biology - An Overview
EIGIL KJELDSEN and STEEN K0LVRAA
Introduction
FISH, as an acronym for fluorescence in situ hybridization, has been
coined to describe this very powerful technique which allows direct visualization of genetic alterations on a cell by cell basis. Generally, the aim of
the technique is to demonstrate either imbalances, in the form of gains or
losses of segments of chromosome materials, or to demonstrate specific
breakpoints with or without imbalance. Since fluorescence hybridization
initially was introduced for chromosome classification (Pinkel et al. 1986)
the technique has been adopted in an ever-increasing range of applications in both medicine and biology and almost 10,000 articles have
now been published utilizing FISH technology. The present review will
give an outline of the principles of this technique and its use in different
areas of human disease and in research, with special emphasis on FISH as
a diagnostic tool in chromosome and genome analysis within clinical genetics and oncology.
Historic perspectives
Although routine chromosome diagnostics utilizing conventional banding
methods have been used during the last 3 decades, the first identification
of chromosomes was much earlier (Table 1). Chromosomes were originally seen late in the last century and were described as heavily stained
~ Eigil Kjeldsen, Aarhus University Hospital, Department of Clinical Genetics,
Aarhus C, 8000, Denmark (phone +45 8949 4354; fax +45 8949 4370;
e-mail eikjeld@nf.au.dk)
Steen K0lvraa, Aarhus University, Institute of Human Genetics, The Bartholin
Building, Aarhus C, 8000, Denmark (phone +45-8942-1677; fax +45-8612-3173;
e-mail steen@humgen.au.dk)
OVERVIEW
FISH Techniques, FISH Probes and Their Applications
in Medicine and Biology - An Overview
EIGIL KJELDSEN and STEEN K0LVRAA
Introduction
FISH, as an acronym for fluorescence in situ hybridization, has been
coined to describe this very powerful technique which allows direct visualization of genetic alterations on a cell by cell basis. Generally, the aim of
the technique is to demonstrate either imbalances, in the form of gains or
losses of segments of chromosome materials, or to demonstrate specific
breakpoints with or without imbalance. Since fluorescence hybridization
initially was introduced for chromosome classification (Pinkel et al. 1986)
the technique has been adopted in an ever-increasing range of applications in both medicine and biology and almost 10,000 articles have
now been published utilizing FISH technology. The present review will
give an outline of the principles of this technique and its use in different
areas of human disease and in research, with special emphasis on FISH as
a diagnostic tool in chromosome and genome analysis within clinical genetics and oncology.
Historic perspectives
Although routine chromosome diagnostics utilizing conventional banding
methods have been used during the last 3 decades, the first identification
of chromosomes was much earlier (Table 1). Chromosomes were originally seen late in the last century and were described as heavily stained
~ Eigil Kjeldsen, Aarhus University Hospital, Department of Clinical Genetics,
Aarhus C, 8000, Denmark (phone +45 8949 4354; fax +45 8949 4370;
e-mail eikjeld@nf.au.dk)
Steen K0lvraa, Aarhus University, Institute of Human Genetics, The Bartholin
Building, Aarhus C, 8000, Denmark (phone +45-8942-1677; fax +45-8612-3173;
e-mail steen@humgen.au.dk)
OVERVIEW