Advanced Techniques In Chromosome Research

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

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.

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.

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.

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field

This book is a compilation of various chapters contributed by a group of leading researchers from different countries and covering up to date information based on published reports and personal experience of authors in the field of cytogenetics. Beginning with the introduction of chromosome, the subsequent chapters on organization of genetic material, karyotype evolution, structural and numerical variations in chromosomes, B-chromosomes and chromosomal aberrations provide an in-depth knowledge and easy understanding of the subject matter. A special feature of the book is the inclusion of a series of chapters on various types of chromosomal aberrations and their impact on breeding behaviour and crop improvement. The possible mechanism, their consequences and role in genetic analysis has been emphasized in these chapters. A few chapters have also been dedicated on various techniques routinely used in the laboratory by students and researchers. Each chapter ends with an extensive bibliography so that the students and researchers may find it relevant to consult more literature on the subject than a book of this size can offer. The book is intended to fulfill the needs of undergraduate and post graduate students of botany, zoology and agriculture besides, teachers and researchers engaged in the field of genetics, cytogenetics, and molecular genetics. In general the readers will find each chapter of the book informative and easy to understand.