Human Chromosome Methodology
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| Author | : Jorge J. Yunis |
| Publisher | : Academic Press |
| Total Pages | : 273 |
| Release | : 2013-10-22 |
| Genre | : Science |
| ISBN | : 1483266311 |
Human Chromosome Methodology fills the need for an authoritative and up-to-date treatise which would serve as a text and reference for advances in human cytogenetics. The book includes readily comprehensible chapters that cover each phase of laboratory investigation from the preparation of materials for sex chromatin and chromosome techniques for bone marrow, blood, skin, and gonadal specimens to the subject of autoradiography and chromosome identification. Included also are guides to microscopy and photomicrography as well as an up-to-date treatment of chromosomes in disease. It is hoped that this volume will serve as an adequate guide to laboratory techniques and their applications for research workers, students of genetics, and members of the medical profession involved in setting up a laboratory of cytogenetics.
| Author | : National Research Council |
| Publisher | : National Academies Press |
| Total Pages | : 128 |
| Release | : 1988-01-01 |
| Genre | : Science |
| ISBN | : 0309038405 |
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
| Author | : Torbjoern Caspersson |
| Publisher | : Elsevier |
| Total Pages | : 357 |
| Release | : 1973-01-01 |
| Genre | : Science |
| ISBN | : 0323162673 |
Chromosome Identification—Technique and Applications in Biology and Medicine contains the proceedings of the Twenty-Third Nobel Symposium held at the Royal Swedish Academy of Sciences in Stockholm, Sweden, on September 25-27,1972. The papers review advances in chromosome banding techniques and their applications in biology and medicine. Techniques for the study of pattern constancy and for rapid karyotype analysis are discussed, along with cytological procedures; karyotypes in different organisms; somatic cell hybridization; and chemical composition of chromosomes. This book is comprised of 51 chapters divided into nine sections and begins with a survey of the cytological procedures, including fluorescence banding techniques, constitutive heterochromatin (C-band) technique, and Giemsa banding technique. The following chapters explore computerized statistical analysis of banding pattern; the use of distribution functions to describe integrated profiles of human chromosomes; the uniqueness of the human karyotype; and the application of somatic cell hybridization to the study of gene linkage and complementation. The mechanisms for certain chromosome aberration are also analyzed, together with fluorescent banding agents and differential staining of human chromosomes after oxidation treatment. This monograph will be of interest to practitioners in the fields of biology and medicine.
| Author | : Herman E. Wyandt |
| Publisher | : Springer |
| Total Pages | : 500 |
| Release | : 2017-03-28 |
| Genre | : Medical |
| ISBN | : 9811030359 |
This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.
| Author | : Marilyn S. Arsham |
| Publisher | : John Wiley & Sons |
| Total Pages | : 1216 |
| Release | : 2017-04-24 |
| Genre | : Science |
| ISBN | : 1119061229 |
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.
| Author | : Jorge Yunis |
| Publisher | : Elsevier |
| Total Pages | : 349 |
| Release | : 2012-12-02 |
| Genre | : Medical |
| ISBN | : 0323154832 |
Molecular Structure of Human Chromosomes is an authoritative guide to genetics, focusing on human genome. This reference compiles contributions covering available knowledge on human genome structure and organization, which the previous researches fail to encompass. This text provides a comprehensive discussion of cytogenetic techniques, emphasizing their application to human genome studies and examinations. The book is divided into nine chapters. It explains the molecular organization and function of the human genome and the DNA sequences in man. It also discusses the localization of human gene by in situ hybridization and the approaches to gene mapping. The book describes the structure of the chromosomes and the trends in chromosome techniques; banding and polymorphism; and repetitive DNA and primate evolution. Various practitioners in genetics and biology will find this book a good reference. Students and novices in these fields will also find this book an excellent guide.
| Author | : Harry Harris |
| Publisher | : Plenum Publishing Corporation |
| Total Pages | : 352 |
| Release | : 1970 |
| Genre | : Science |
| ISBN | : 9780306396014 |
From reviews of previous volumes in the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The most lucid and stimulating discussions of the topic to be found anywhere.'-American Scientist
| Author | : Steven L. Gersen |
| Publisher | : Springer |
| Total Pages | : 580 |
| Release | : 1999-03-17 |
| Genre | : Medical |
| ISBN | : |
Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians who depend on the cytogenetics laboratory for the diagnosis of their patients.
| Author | : Orlando J. Miller |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 508 |
| Release | : 2011-06-28 |
| Genre | : Medical |
| ISBN | : 1461301394 |
The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.
| Author | : The Royal Society |
| Publisher | : National Academies Press |
| Total Pages | : 239 |
| Release | : 2021-01-16 |
| Genre | : Medical |
| ISBN | : 0309671132 |
Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
