The osteoclast is a large multinucleate cell formed from the fusion of mono-nuclear precursor cells of hemopoietic origin Unique markers of the osteoclast have been difficult to identify. Widely used techniques, such as histochemical location of tartrate-resistant acid phosphat ...
The most conspicuous function of the osteoblast is the formation of bone. During phases of active bone formation, osteoblasts synthesize bone matrix and prime it for subsequent mineralization. Active osteoblasts are plump, cuboidal cells rich in organelles involved in the synthesis a ...
More than 500 different mutations have been described to date on the cystic fibrosis (CF) gene (1). The most frequent mutation is the so-called ΔF508 mutation, which accounts for 30–50%;of CF chromosomes in southern European countries and for 50–80%; of CF chromosomes in the United States, Canada, A ...
For several years, tracheal gland cells have been cultured from different animal species, such as the cat (1), cow (2), and ferret (3). There are dlffer ences, however, in the structure and function of the various animal airways, rendering it difficult to extrapolate to humans. In this chapter, the auth ...
Gene transfer into airway epithelial cells becomes a particularly motivating goal as far as cystic fibrosis (CF) is concerned. As mentioned in Chapter 15, approx 90% of deaths caused by this devastating disease are the result of infections of the respiratory tract owing to dysfunction of the Cl- t ...
Cystic fibrosis (CF) is the most frequent (incidence around l/2500 live births) genetic cause of death among Caucasians. It is an autosomal recessive disorder compromising the secretory epithelia. Clinically, CF is a polymorphic disease showing abnormal functioning of the airways, t ...
In this chapter we provide a unique collection of internet sites related to cytogenetics, FISH and FISH probes, array techniques, genome browsers, cytogenetic associations, (molecular) cytogenetic courses, the medical literature, genetics and biology, genetics and education, a ...
Array comparative genomic hybridization (array CGH) enables the genome-wide detection of genomic copy number variations between test and reference samples. Genomic DNA from test and reference samples are differentially labeled with fluorochromes and cohybridized to DNA pro ...
Comparative genomic hybridization (CGH) is a well-established technique in the field of molecular cytogenetics for performing the comprehensive analysis of chromosomal imbalances of entire human genomes. Genomic DNA from a tested specimen (test DNA) and a normal one (reference DN ...
Due to continuous improvements in the FISH technique, it is now a very useful tool for studies in microbiology. Knowledge of the compositions and distributions of microorganisms in natural habitats plays a key role in safety and technological aspects of food microbiology. FISH can be used dir ...
FISH, which allows the mapping of DNA sequences directly onto chromosomes, has revolutionized plant molecular cytogenetics research since it was first adapted from mammalian research. Repetitive DNA sequences can generate unique FISH patterns on individual chromosomes for ka ...
Insect cells transfected with heterologous DNA can be used to assess the functional properties of genes that have been isolated or subjected to in vitro mutagenesis. An example of such a cell system is embryonic cells derived from Drosophila melanogaster. These cells can be transfected with s ...
Yeasts represent powerful genetic model organisms, due in part to their tiny genomes with very little repetitive DNA. However, one drawback of this feature is an ill-defined metaphase chromosome structure. Fluorescence in situ hybridization has overcome this cytological disadva ...
The invention of cross-species chromosome painting (ZOO-FISH) represents the most significant technical breakthrough in animal cytogenetics since the introduction of chromosomal banding techniques in the late 1960s and early 1970s. It has made it possible to compare the karyoty ...
An established method for performing the entire FISH procedure in suspension instead of on a slide (the usual approach) is described. This so-called suspension FISH (S-FISH) technique has opened up new possibilities for the analysis of the shape and internal structure of the human interpha ...
Interphase fluorescence in situ hybridization (I-FISH) beautifully exemplifies what a molecular cytogenetic technique can offer in contrast to conventional cytogenetic approaches: the analysis of chromosomal DNA at all stages of the cell cycle. It has made it possible to study chro ...
Except for when individuals have variations in the pericentric heterochromatic chromosomal regions (including acrocentric short arms), it is not possible to distinguish between homologous chromosomes at a single-cell level. Due to this limitation, various questions of scien ...
Several hybridization-based methods that are used to delineate single-copy or repeated DNA sequences over larger genomic intervals take advantage of the increased resolution and sensitivity of free chromatin, i.e., chromatin released from interphase cell nuclei. Quantitati ...
Aside from microscopically visible chromosomal rearrangements, numerous cryptic chromosomal alterations have been reported since the introduction of techniques like FISH, array-CGH or MLPA. This is especially true of dynamic regions in the subtelomere and subcentromere of a ...
Multicolor FISH using whole-chromosome painting and FISH banding with partial chromosome painting probes are, for technical reasons, not suited to the characterization of small centromeric and pericentromeric rearrangements. Thus, probe sets for characterizing the diffe ...