Molecular Cytogenetics

Yao-Shan Fan and a panel of senior scientists and pioneering researchers describe in step-by-step style the leading FISH techniques and those molecular technologies beyond FISH 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.

The past two decades have witnessed a truly phenomenal growth and expansion in our knowledge of the principles and mechanisms of in heritance. :\iolecular and microbial genetics, for all purposes non-existent at the outset of this period, have developed and flourished to the extent of becoming major branches of genetics from which the most exciting and edifying concepts of gene function and structure have been derived. Similarly, man, heretofore a genetic curiosity, has become in his own right a genetic organism of first rank importance. It is, therefore, not without reason that accompanying the rapid proliferation of genetic knowledge, a parallel increase has occurred in the technical nomen clature and terminology special to the field of genetics and often special to specific branches of genetics. In preparing this glossary of ca. 2500 entries, we have attempted to compile and collate the terminology from seemingly unrelated, widely separated branches of genetics - classical and molecular; microbial and human; cytogenetics and population genetics. We have not been content merely to collect terms and definitions much as is found in a dictionary. Rather our aim has been to provide material suitable and usable both for students and research workers. Accordingly, depending upon our evaluation, some terms have simply been defined, others have been described at some length even to the extent of providing experi mental data.

The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. New contributors reflecting broader international authorship and even greater expertise Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date Now produced in full color for enhanced clarity Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible

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, maternal–fetal 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.

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field

This volume represents the Proceedings of the Twenty-Sixth Annual Biology Division Research Conference held April 9-12, 1973 in Gatlinburg, Tennessee. The subject of the symposium was Molecular Cytogenetics and the aim of the meeting was to bring together researchers interested in problems of chromosome organi zation, activity and regulation in prokaryotes and eukaryotes. Cytological, biochemical and genetic approaches to these questions were included since the collective information gained from these disciplines provides an integrated approach to genome structure and function. The meeting was sponsored by the Biology Division of the Oak Ridge National Laboratory*. It would not have been possible with out the interest and cooperation of the organizing committee under the chairmanship of O. L. Miller, Jr. Special thanks are due to the chairmen and speakers for making this volume possible and to Dr. Waldo Cohn for his assistance in editing. Preparation of the completed volume was due in large part to the efforts of Sandra Vaughan of the Biology Division. The Editors Barbara Ann Hamkalo John Papaconstantinou August, 1973 * Operated by the Union Carbide Corporation for the U.S. Atomic Energy Commission.

Following a section on tissue culture, chromosome staining and basic information about karyotyping, this text presents nomenclature and quality standards, as well as protocols of relevance to comprehensive cytogenetic diagnostics.

Genomic technologies provide the means of diagnosis and management of many human diseases. Without insights from cytogenetics, correct interpretation of modern high-throughput results is difficult, if not impossible. This book summarizes applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics and diagnostics. The book combines the state-of-the-art knowledge and practical expertise from leading researchers and clinicians and provides a comprehensive overview of current medical and research applications of many of these technologies. KEY FEATURES • Provides clear summaries of fluorescence in situ hybridization technologies and others • Comprehensively covers established and emerging methods • Chapters from an international team of leading researchers • Useful for students, researchers and clinicians

This comprehensive and well-written text provides thorough understanding of the principles and applications of cytogenetics and genetics in an easy-to-understand style. The text is divided into Four parts. Part I on Principles of Cytogenetics deals with evolution and structure of cell, cell division and change, and structure of genetic material. Part II on Principles of Genetics provides detailed discussions on transmission, distribution and arrangement of genetic material, and evolution of species. Part III which is on Molecular Genetics discusses functions of genetic material including biotechnology and genetic engineering, and the last Part IV on Quantitative Genetics deliberates on the course of genetic material in populations. A historical approach to the subject has also been presented to show the continuity and progress. KEY FEATURES: Incorporates latest and up-to-date information on the subjects covered. Provides review questions at the end of each chapter to test the understanding of the concepts discussed. Gives ample references to explore further. Includes a glossary of important terms. The book is eminently suitable for undergraduate and postgraduate students of botany, agriculture, zoology and biotechnology for courses in genetics/genetics and cytogenetics. In addition, the book would also be useful to students appearing in different competitive examinations.

Cytogenetics, fluorescence in situ hybridization (FISH) and molecular tests, especially polymerase chain reaction (PCR), play an important role in the management of patients with hematologic malignancies by helping to establish the diagnosis, as well as predict prognosis, response to treatment and disease progression. Chromosomal and molecular abnormalities provide the most reliable criteria for classification of hematopoietic tumors and often comprise the basis for targeted therapy. Cytogenetics, FISH and Molecular Testing in Hematologic Malignancies, provides a review of chromosomal and molecular changes in hematologic malignancies and correlates the karyotypic and genetic abnormalities with morphology, immunophenotype and clinical data. With over 180 figures and diagnostic algorithms, this text is essential reading for all pathologists, hematopathologists, hematologic oncologists, cytogenetists, cytogenetic technologists and cell biologists.