Methods In Human Cytogenetics

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.

Methods in human cytogenetics; Cell cultures from blood and bone marrow and tissue explands; Culture and preparation of cells from amniotic fluid; Preparation of metaphase chromosomes; Fluorescence microscopy of chromossomes and interphase nuclei; Banding patters in human chromossome visualized by giemsa staining after various pretreatments.

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.

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.

Contributors detail up-to-date guidelines for using molecular techniques, cytogenetic and linkage analysis, and cellular methods, emphasizing human cells and medically relevant research. They present results of recent applications of techniques and step-by-step protocols for cloning large DNA molecu

The history of science is mostly written retrospec tively, a generation or two after the actual events being discussed. Science historians are now analyzing and evaluating the origins of evolutionary and genetical theory in the nineteenth century and a sort of "Darwin industry" seems to have grown up. A history of mammalian cytogenetics by one of the main participants is, hence, a very welcome change, since it has a vividness, an immediacy and a personal flavor which these scholarly tomes and the official biog raphies of scientists mostly lack. The life of the author, Chinese-born, T. C. Hsu, has been a romantic and color ful one, and he is himself a unique personality, so that his book is a very unusual blend of reminiscences, history of his special field (which has transformed human genetics) and wise comments on the mistakes made along the way. The best qualities of a very fine Chinese mind have contributed to Dr. Hsu's career, including this book. Those qualities (which seem to me especially Chinese) include a kind of transparent honesty, a very direct em pirical approach to problems and superb technical ability.

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.