Human Chromosome Methodology Book in PDF, ePub and Kindle version is available to download in english. Read online anytime anywhere directly from your device. Click on the download button below to get a free pdf file of Human Chromosome Methodology book. This book definitely worth reading, it is an incredibly well-written.
Human Chromosome Methodology by Jorge J. Yunis Pdf
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 : John R. Gosden Publisher : Springer Science & Business Media Page : 508 pages File Size : 48,7 Mb Release : 2008-02-02 Category : Medical ISBN : 9781592595167
Chromosome Analysis Protocols by John R. Gosden Pdf
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.
National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Mapping and Sequencing the Human Genome
Author : National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Mapping and Sequencing the Human Genome Publisher : National Academies Press Page : 128 pages File Size : 52,9 Mb Release : 1988-01-01 Category : Science ISBN : 9780309038409
Mapping and Sequencing the Human Genome by National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Mapping and Sequencing the Human Genome Pdf
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.
Human Chromosome Atlas by Claudia Behrend,Javad Karimzad Hagh,Parvin Mehdipour,Heinz Schott,Gesa Schwanitz Pdf
Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III show the spectrum of different types of chromosomal abnormalities by a combination of karyogram and ideogram. They compare the significance of different banding techniques, give the karyotype formula and describe morphological peculiarities of each case presented. The final part provides a detailed description of non-coding DNA variants and focuses on potential problems in the detection of aberrations. It also mentions necessary additional investigations and peculiarities to be considered when counselling carriers of a chromosomal aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.
Molecular Structure of Human Chromosomes by Jorge Yunis Pdf
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.
Methods in Human Cytogenetics by E. Passarge,H.G. Schwarzacher,U. Wolf Pdf
This volume was originally intended to be an English translation of the book MetllOden in der medizinischen Cytogenetik, published in 1970. Just about then, however, a number of new techniques were introduced in human cytogenetics and soon acquired the utmost importance, parti cularly in clinical diagnosis, so that the English edition had to be con siderably enlarged. As a result, there are now twelve chapters instead of eight, and two additional authors have been called upon, Dr. KRONE and Dr. SCHNEDL. In addition to the up-to-date presentation of con ventional methods of cell culture and techniques for the preparation and identification of human chromosomes, this text covers the various tech niques of producing banding patterns and applying them in chromo some identification. Further, it deals with the culture of amniotic fluid cells and gives instructions for handling tissue-culture cells for bio chemical analysis; it thus meets the ever-increasing requirements of a modern cell-culture laboratory. To paraphrase the aims of this book, we quote part of the preface to the German edition: "It was intended to collect the various methods so as to make them accessible for laboratory use. Furthermore, it is hoped that the reader faced with current research problems will be stimulated to modify and supplement the techniques described, instead of merely applying them automatically. In a rapidly developing field, some methods are still preliminary, and no final presentation seems possible.
Human Chromosomes by Audrey Bishop,Patricia Cooke Pdf
Human Chromosomes: An Illustrated Introduction to Human Cytogenetics focuses on the processes, methodologies, and approaches involved in the study of human chromosomes. The publication first offers information on the cell and its activity, particularly noting that the cell is the basic unit that forms the organs and tissues of the human body. The differentiation of cells and the process of cell division are discussed. The text then focuses on the culture of human cells for the investigation of the chromosomes. The book elaborates on the identification of human chromosomes, including further methods of identification and the use of radioactive isotopes. The publication also ponders on the numerical changes in the karyotype, structural changes, and X chromosomes. Discussions focus on the processes of mitosis and meiosis, translocation, deletion, duplication, and ring formation, and the behavior, transformation, and characteristics of X chromosome. The text is a valuable reference for researchers interested in the study of human chromosomes.
Author : Herman E. Wyandt,Golder N. Wilson,Vijay S. Tonk Publisher : Springer Page : 490 pages File Size : 50,6 Mb Release : 2017-03-28 Category : Medical ISBN : 9789811030352
Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis by Herman E. Wyandt,Golder N. Wilson,Vijay S. Tonk Pdf
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.
Human Cytogenetics: Constitutional Analysis covers all basic aspects of human cytogenetic study other than malignancies and abnormalities. They are covered in a separate volume. Since the publication of the 2nd edition in 1992, there have been major advances in technology and the emphasis ofthis new edition is on the spectrum of technologies available to conventional and molecular cytogenetics. Perhaps the largest new development has been the transition of fluorescence in situ hybridization to an essential tool for all cytogenetecists and consequently its use in chromosome analysis iscovered in detail. Another important new technology to be described in detail is computerised image analysis. The conventional techniques have not been forgotten, with chapters on chromosome staining and banding techniques and meiotic studies. New authors have been brought in to take a fresh look atlymphocyte culture and prenatal diagnosis. As before, there is an introduction to human chromosomes, their analyses, and the application of cytogenetic investigations to clinical practice. There is also an appendix on health and safety concerns in the cytogenetics laboratory. This book will beinvaluable to any scientists using basic cytogenetics and along with its sister volume Human Cytogenetics: Malignancy and Acquired Abnormalities will be an essential purchase for any cytogenetics laboratory. The volumes are available individually or as a set.
Chromosome identification: Medicine and Natural Sciences by Torbjoern Caspersson Pdf
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.
Marilyn S. Arsham,Margaret J. Barch,Helen J. Lawce
Author : Marilyn S. Arsham,Margaret J. Barch,Helen J. Lawce Publisher : John Wiley & Sons Page : 1216 pages File Size : 49,7 Mb Release : 2017-04-24 Category : Science ISBN : 9781119061229
The AGT Cytogenetics Laboratory Manual by Marilyn S. Arsham,Margaret J. Barch,Helen J. Lawce Pdf
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.
