The new techniques of molecular cytogenetics, mainly fluorescence in situ hybridization (FISH) of DNA probes to metaphase chromosomes or interphase nuclei, have been developed in the past two decades. Many FISH techniques have been implemented for diagnostic services, whereas some others are mainly used for investigational purposes. Several hundreds of FISH probes and hybridization kits are now commercially available, and the list is growing rapidly. FISH has been widely used as a powerful diagnostic tool in many areas of medicine including pediatrics, medical genetics, maternalfetal medicine, reproductive medicine, pathology, hematology, and oncology. Frequently, a physician may be puzzled by the variety of FISH techniques and wonder what test to order. It is not uncommon that a sample is referred to a laboratory for FISH without indicating a specific test. On the other hand, a cytogeneticist or a technologist in a laboratory needs, from case to case, to determine which procedure to perform and which probe to use for an informative result. To obtain the best results, one must use the right DNA probes and have reliable protocols and measures of quality assurance in place. Also, one must have sufficient knowledge in both traditional and molecular cytogenetics, as well as the particular areas of medicine for which the test is used in order to appropriately interpret the FISH results, and to correlate them with clinical diagnosis, treatment, and prognosis.

Includes supplementary material: sn.pub/extras

Klappentext
With the proliferation of fluorescence in situ hybridization (FISH) techniques as a powerful diagnostic tool in many areas of medicine, the variety and complexity of tests pose bewildering choices even for long-experienced laboratory technologists and physicians. In Molecular Cytogenetics: Protocols and Applications, Yao-Shan Fan and a panel of senior scientists and pioneering researchers describe in step-by-step fashion not only the leading FISH techniques, but also those molecular technologies beyond FISH now available for diagnostic services in genetics and oncology. The methods include labeling FISH probes for DNA and RNA targets, fluorescence genotyping, CGH microarray, spectral karyotyping/multicolor FISH, and primed in situ labeling. There are also techniques for multicolor fiber FISH, multi-telomere FISH, prenatal diagnosis using maternal blood, and preimplantation diagnosis. Oncological methods include simultaneous fluorescence immunophenotyping and FISH for leukemia and lymphoma, HER2 amplification in breast cancer, and CAC/PAC for cancer cytogenetics. Each easy-to-follow protocol offers first hand advice on how to obtain the best results, to avoid pitfalls, and to troubleshoot problems. Many protocols discuss possible future applications of the technology and explain its sensitivity and limitations.
Cutting-edge and highly practical, Molecular Cytogenetics: Protocols and Applications offers laboratory physicians and scientists today's most comprehensive and up-to-date collection of FISH protocols for cancer diagnosis and investigation, plus an array of the emerging molecular technologies beyond FISH.

Inhalt
Basic Concepts and Techniques.- Molecular Cytogenetics in Medicine.- Labeling Fluorescence In Situ Hybridization Probes for Genomic Targets.- Labeling Fluorescence In Situ Hybridization Probes for RNA Targets.- Basic FISH Techniques and Troubleshooting.- Evolving Techniques and Applications.- Chromosome Microdissection.- Primed In Situ Labeling.- Spectral Karyotyping.- Multicolor FISH.- Characterization of Constitutional Chromosome Abnormalities by Comparative Genomic Hybridization.- Color Banding.- Multicolor Fiber FISH.- Multi-Telomere FISH.- Fluorescence Genotyping for Screening Cryptic Telomeric Rearrangements.- Microarray CGH.- Special Applications in Chromosomal Disorders.- Molecular Approaches for Delineating Marker Chromosomes.- Interphase FISH for Prenatal Diagnosis of Common Aneuploidies.- Prenatal Diagnosis of Chromosomal Abnormalities Using Maternal Blood.- Preimplantation FISH Diagnosis of Aneuploidies.- Microdeletion Syndromes.- Molecular Detection of Uniparental Disomy.- Molecular Cytogenetics in Reproductive Pathology.- Special Applications in Oncology.- Interphase FISH Studies of Chronic Myeloid Leukemia.- Chromogenic In Situ Hybridization and FISH in Pathology.- FISH Detection of HER2 Amplification in Breast Cancer.- Comparative Genomic Hybridization in Cancer Investigations.- Simultaneous Fluorescence Immunophenotyping and FISH on Tumor Cells.- BAC Resource for Molecular Cytogenetics.