The biochemical processes underlying development are ultimately dependent on accurately timed and regionally specific expression of particular genes. The latter fall into many categories, ranging from those specifying nuclear transcription factors through those coding ...
Hybridization histochemistry can be used at the light microscope level to determine the cellular site of gene expression in heterogeneous cell populations in tissue sections. However, the question often arises as to exactly which cell in a heterogeneous population is labeled and how this ...
Fluorescent in situ hybridization (FISH) is a powerful tool to analyze structural chromosome aberrations. The identification of structural abnormalities by routine and high resolution cytogenetic studies plays an important role in the diagnosis and treatment of disease. Howe ...
Chromosome painting refers to the complete decoration of specific metaphase chromosomes with complex probe mixtures. The painting signal is obtained by fluorescence in situ hybridization (FISH) of such mixtures established from a number of different sources (1–4). This technique ...
Fluorescence in situ hybridization (FISH) techniques are routinely used in physical mapping studies to determine the regional localization of gene and DNA sequences on human metaphase chromosomes (1). It is often difficult, however, to precisely position the hybridization signa ...
Alpha satellite DNA is a primate-specific family of tandemly repeated sequences present in the centromeric regions of all human chromosomes (1–3). The basic unit is a monomer repeat of approx 170 basepair (bp) that contains both sequences conserved among the different chromosomes and var ...
Telomeres and centromeres are critical structural and functional elements of eukaryotic chromosomes. Thus, they are important to our understanding of the organization and management of complex genomes. Termini of eukaryotic chromosomes are characterized by short, tandem rep ...
Yeast artificial chromosomes (YACs) (1) containing human inserts of up to 1 megabase (Mb) length have been mapped by fluorescence in situ hybridization (FISH) (for review see ref. 2). If total yeast clone DNA is used as a probe, an excess of yeast DNA (approx 98%) is labeled in addition to the human sequences (a ...
The yeast artificial chromosome (YAC) cloning system is capable of cloning large segments of DNA (50–2000 kb) from complex genomes (1). YAC genomic libraries have been constructed using DNA from human as well as other species and have been proven to be powerful tools for the analysis of the human geno ...
During the last two decades, techniques for the detection of specific DNA and RNA sequences in situ have been developed. In the beginning, only radioactive detection was possible, which to some extent made these techniques unsuited for routine purposes. Within the last decade, a number of nonra ...
The first part of this chapter (Sections 1.1 –1.6.) describes the complete positional cloning process with an emphasis on how multicolor in situ hybridization expedites these studies. Multicolor in situ hybridization is very useful in positional cloning because it maps cloned DNA quick ...
This chapter reviews data from in situ hybridization (ISH) experiments to determine the distribution, frequency, and intracellular localization of virus nucleic acids in tissue samples infected naturally with hepatitis viruses B, C, and D, and with human papillomaviruses. We have al ...
A challenging problem of in situ hybridization is to visualize then localize genes or specifie sequences within the interphase nuclei or on chromosomes, as we now have at our disposai a large panel of probes. In addition, methods for probe labeling are continuously being improved to allow incre ...
The identification of numerical and structural chromosome abnormalities by routine and high resolution cytogenetic studies plays an important role in the diagnosis and treatment of various diseases. The analysis of structural aberrations is relatively gross and only permits t ...
A marker chromosome is one that is morphologically different from any normal chromosome with its origin not being readily discernible by classical cytogenetic techniques. Marker chromosomes in neoplasia often represent the products of complex rearrangements and will not be disc ...
Linkage disequilibrium (LD) mapping has been established as a promising approach to identifying disease genes. The presence of a disease gene located near a marker locus may cause LD between the marker and the disease loci. In LD mapping, we assume that some of the affected individuals may have a comm ...
Low-penetrance alleles are likely to contribute to inherited susceptibility to many complex traits. Such alleles will rarely generate multiple-case families and are therefore difficult or impossible to identify through genetic linkage analyses. The search for low-penetran ...
The genetic dissection of complex disorders via genetic marker data has gained popularity in the postgenome era. Methods for typing genetic markers on human chromosomes continue to improve. Compared with the popular individual genotyping experiment, a pooled-DNA experiment (all ...
The design of genetic association studies using single-nucleotide polymorphisms (SNPs) requires the selection of subsets of the variants providing high statistical power at a reasonable cost. SNPs must be selected to maximize the probability that a causative mutation is in linkage d ...
We consider the problem of controlling false discoveries in association studies. We assume that the design of the study is adequate so that the “false discoveries” are potentially only because of random chance, not to confounding or other flaws. Under this premise, we review the statistical fr ...
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