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The book helps the reader to better understand cytogenetics and the intricacies of the methodology. The different methods of fluorescence in situ hybridization are discussed and the results achieved are presented. The book provides a comprehensive review of basic and applied aspects of cytogenetics and thus is of intense interest to all those interested in chromosomes and their alterations by different types of mutagens, including chemical mutagens and ionizing and nonionizing radiation, with special reference to electromagnetic fields.
Chromosome Techniques: Theory and Practice, Third Edition focuses on chromosome research. The book first discusses pre-treatment and hypotonic treatment. Pre-treatment for clearing the cytoplasm and softening the tissues; separation of chromosomes and clarification of constrictions; and hypotonic treatment for chromosome spread are described. The text also explains fixation and processing, including fixing of fluids and mixtures and air-drying techniques for chromosome study. The selection also discusses methods for special materials. Study of division in embryosac mother cells; study of chromosomes from thallophytes; salivary gland, lamp brush, and pachytene chromosomes; spiral structure; and secondary constriction are explained. The text also discusses microscopy, including ordinary light microscopy, high resolution autoradiography, and light microscope autoradiography. The book discusses study of plant chromosomes from tissue culture; chromosome analysis following short- and long-term cultures in animals, including man; and chromosome analysis from malignant tissues. The text takes a look at the banding patterns of chromosomes, including banding pattern techniques, C-banding, and representative schedules for comparative study of different banding patterns. The book further describes somatic cell fusion and the chemical nature of chromosomes, proteins, and enzymes. The text is a vital source of information for readers wanting to conduct research on chromosomes.
Chromosomes, as the genetic vehicles, provide the basic material for a large proportion of genetic investigations, from the construction of gene maps and models of chromosome organization, to the inves tigation of gene function and dysfunction. The study of chromosomes has developed in parallel with other aspects of molecular genetics, beginning with the first preparations of chromosomes from animal cells, through the development of banding techniques, which permitted the unequivocal identification of each chromosome in a karyotype, to the present analytical methods of molecular cytogenetics. Although some of these techniques have been in use for many years, and can be learned relatively easily, most published scientific reports—as a result of pressure on space from editors, and the response to that pressure by authors—contain little in the way of technical detail, and thus are rarely adequate for a researcher hoping to find all the necessary information to embark on a method from scratch. A new user needs not only a detailed description of the methods, but also some help with problem solving and sorting out the difficulties en countered in handling any biological system. This was the require ment to which the series Methods in Molecular Biology is addressed, and Chromosome Analysis Protocols forms a part of this series.
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.
Equine Reproductive Procedures is a user-friendly guide to reproductive management, diagnostic techniques, and therapeutic techniques on stallions, mares, and foals. Offering detailed descriptions of 161 procedures ranging from common to highly specialized, the book gives step-by-step instructions with interpretative information, as well as useful equipment lists and references for further reading. Presented in a highly portable spiral-bound format, Equine Reproductive Procedures is a practical resource for daily use in equine practice. Divided into sections on the non-pregnant mare, the pregnant mare, the postpartum mare, the stallion, and the newborn foal, the book is well-illustrated throughout with clinical photographs demonstrating procedures. Equine Reproductive Procedures provides practical guidance for performing basic and advanced techniques associated with the medical management of horses.
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care.
By focusing on chromosomes, Heredity under the Microscope offers a new history of postwar human genetics. Today chromosomes are understood as macromolecular assemblies and are analyzed with a variety of molecular techniques. Yet for much of the twentieth century, researchers studied chromosomes by looking through a microscope. Unlike any other technique, chromosome analysis offered a direct glimpse of the complete human genome, opening up seemingly endless possibilities for observation and intervention. Critics, however, countered that visual evidence was not enough and pointed to the need to understand the molecular mechanisms. Telling this history in full for the first time, Soraya de Chadarevian argues that the often bewildering variety of observations made under the microscope were central to the study of human genetics. Making space for microscope-based practices alongside molecular approaches, de Chadarevian analyzes the close connections between genetics and an array of scientific, medical, ethical, legal, and policy concerns in the atomic age. By exploring the visual evidence provided by chromosome research in the context of postwar biology and medicine, Heredity under the Microscope sheds new light on the cultural history of the human genome.