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The Principles of Clinical Cytogenetics by Steven Gersen,Martha B. Keagle Pdf
This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.
Author : Steven L. Gersen,Martha B. Keagle Publisher : Springer Science & Business Media Page : 589 pages File Size : 42,6 Mb Release : 2008-08-17 Category : Medical ISBN : 9781592598335
The Principles of Clinical Cytogenetics by Steven L. Gersen,Martha B. Keagle Pdf
In the summer of 1989, one of us (SLG), along with his mentor, Dorothy Warb- ton, attended the Tenth International Workshop on Human Gene Mapping. The me- ing was held at Yale University in celebration of the first such event, which also took place there. This meeting was not open to the general public; one had to have contributed to mapping a gene to be permitted to attend. The posters, of course, were therefore all related to gene mapping, and many were covered with pretty, colorful pictures of a novel, fluorescent application of an old technology, in situ hybridization. Walking through the room, Dorothy remarked that, because of this new FISH technique, ch- mosomes, which had become yesterday’s news, were once again “back in style. ” Approximately three years later, a commercial genetics company launched a FISH assay for prenatal ploidy detection. A substantial number of cytogeneticists across the country reacted with a combination of outrage and panic. Many were concerned that physicians would be quick to adopt this newfangled upstart test and put us all on the unemployment line. They did not at the time realize what Dorothy instinctively already knew—that FISH would not spell the doom of the cytogenetics laboratory, but it would, rather, take it to new heights.
The book is basically intended to accompany a course in cytogenetics students of Genetics and Plant Breeding . Students are presumed to have knowledge of basics in genetics, cytology and plant breeding but in the present book with the help of diagrams and explanations it has been attempted that even a beginner could grasp the core elements of the subject. The book has been strictly organized on the basis of course curriculum being taught in Universities. All the topics covered in the book have been ordered in a crisp and comprehensible manner avoiding complexities of a traditional textbook since it is a simply a guide book to supplement but not supplant the main texts.
Fundamentals of Cytogenetics and Genetics by Mahabal Ram Pdf
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.
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 : 55,5 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.
Cytogenetics plays an important role in understanding the chromosomal and genetic architecture of plant species. Plant Cytogenetics, Third Edition follows the tradition of its predecessors presenting theoretical and practical aspects of plant cytogenetics. Chapters describe correct handling of plant chromosomes, methods in plant cytogenetics, cell division, reproduction methods, chromosome nomenclature, karyotype analysis, chromosomal aberrations, genome analysis, transgenic crops, and cytogenetics in plant breeding. This new edition begins with a brief introduction on the historical aspect of cytogenetics and flows directly into handling of plant chromosomes by classical and modern cytological techniques, classical Mendelian Genetics, brief description of cell division, and chromosome identification by karyotype analysis. The comprehension of cytogenetics is incomplete without information on the role of aneuploidy in associating a gene on a particular chromosome, and the book covers these methodologies as a primary topic. Covering classical to modern cytogenetics, the book presents to the reader the crucial role of cytogenetics in improving crops.
Techniques in Animal Cytogenetics by Paul Popescu,Helene Hayes,Bernard Dutrillaux Pdf
A better "casting" could not be conceived. The authors of this book are gold smiths on the subject. I have followed their work since their "entry" into cyto genetics and I have a high esteem for them. I consider it an honour to be asked to write the preface of their opus. Paul Popescu, Directeur de Recherche at INRA, has also played a promi nent part in the development of animal cytogenetics, especially in domestic animals. He is able to tell you the cost of a translocation in a pig breeding farm or a cow population: a fortune! P. Popescu has played a great part in gene mapping of these species using "in situ DNA hybridisation". His contributions are recognised world-wide. His laboratory receives many visitors every year and it serves as a reference for domestic animal cytogenetics. Helene Hayes, Charge de Recherche at INRA, has collaborated with P. POPESCU in the elaboration of the "at hand" techniques and in many other discoveries which are listed in her bibliography. She showed the fascinating correspondence between bovine and human chromosomes and the com pared gene maps of domestic bovidae.
Molecular Genetic Pathology by Liang Cheng,David Y. Zhang,John N. Eble Pdf
Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.
The only monograph on cytogenetics for the pathologist, this up-to-the-minute reference/text contains the most up-to-date research findings on many important topics in medical genetics-notably FISH (fluorescent in situ hybridation)-based molecular cytogenetic technologies and spectral karyotyping. An excellent resource for cytogeneticists prepar
Since 1961 the author has taught a course in Cytogenetics at Montana State University. Undergraduate and graduate stu dents of Biology, Chemistry, Microbiology, Animal and Range Science, Plant and Soil Science, Plant Pathology and Veterinary Science are enrolled. Therefore, the subject matter has been pre sented in an integrated way to correlate it with these diverse disciplines. This book has been prepared as a text for this course. The most recent Cytogenetics text was published in 1972, and rapidly developing research in this field makes a new one urgently needed. This book includes many aspects of Cytogenetics and related fields and is written for the college student as well as for the researcher. It is recommended that the student should have taken preparatory courses in Principles of Genetics and Cytol ogy. The content is more than is usually taught during one quar ter of an academic year, thus allowing an instructor to choose what he or she would like to present to a class. This approach also allows the researcher to obtain a broad exposure to this field of biology. References are generously supplied to stimulate orig inal reading on the subject and to give access to valuable sources. The detailed index is intended to be of special assistance to researchers.
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.
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody Pdf
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field
