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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.
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.
This reference book provides information on plant cytogenetics for students, instructors, and researchers. Topics covered by international experts include classical cytogenetics of plant genomes; plant chromosome structure; functional, molecular cytology; and genome dynamics. In addition, chapters are included on several methods in plant cytogenetics, informatics, and even laboratory exercises for aspiring or practiced instructors. The book provides a unique combination of historical and modern subject matter, revealing the central role of plant cytogenetics in plant genetics and genomics as currently practiced. This breadth of coverage, together with the inclusion of methods and instruction, is intended to convey a deep and useful appreciation for plant cytogenetics. We hope it will inform and inspire students, researchers, and teachers to continue to employ plant cytogenetics to address fundamental questions about the cytology of plant chromosomes and genomes for years to come. Hank W. Bass is a Professor in the Department of Biological Science at Florida State University. James A. Birchler is a Professor in the Division of Biological Sciences at the University of Missouri.
A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. - Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics - Features chapter contributions from leaders in the field - Consolidates fundamental concepts and current practices of precision medicine in one convenient resource
An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.
An introductory discussion of basic chromosome structure and function preceeds the main text on the application of cytogenetic approaches to the analysis of the manipulation of both the genetic make-up and the genetic transmission system of plant breeding material. Analysis using light and electron microscopy, segregations and molecular techniques, yields information for assessing the material before and after manipulation. Much attention is given to quantitative methods. Manipulation not only involves the construction of specific genotypes, but also chromosomal transmission systems. Although analysis and manipulation in the somatic cycle are considered, the focus is on the generative cycle, with emphasis on analysis and subsequent segregation of specifically constructed material. The book is intended for plant breeders and other scientists interested in the analysis and manipulation of breeding material at the chromosomal level. Comparisons with molecular and cell biological approaches are made, and the potential of the various methods is evaluated.
The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. New contributors reflecting broader international authorship and even greater expertise Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date Now produced in full color for enhanced clarity Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible
The Foundations of Genetics describes the historical development of genetics with emphasis on the contributions to advancing genetical knowledge and the various applications of genetics. The book reviews the work of Gregor Mendel, his Law of Segregation, and of Ernst Haeckel who suggested that the nucleus is that part of the cell that is responsible for heredity. The text also describes the studies of W. Johannsen on "pure lines," and his introduction of the terms gene, genotype, and phenotype. The book explains the theory of the gene and the notion that hereditary particles are borne by the chromosomes (Sutton-Boveri hypothesis). Of the constituent parts of the nucleus only the chromatin material divides at mitosis and segregates during maturation. Following studies confirm that the chromatin material, present in the form of chromosomes with a constant and characteristic number and appearance for each species, is indeed the hereditary material. The book describes how Muller in 1927, showed that high precision energy radiation is the external cause to mutation in the gene itself if one allele can mutate without affecting its partner. The superstructure of genetics built upon the foundations of Mendelism has many applications including cytogenetics, polyploidy, human genetics, eugenics, plant breeding, radiation genetics, and the evolution theory. The book can be useful to academicians and investigators in the fields of genetics such as biochemical, biometrical, microbial, and pharmacogenetics. Students in agriculture, anthropology, botany, medicine, sociology, veterinary medicine, and zoology should add this text to their list of primary reading materials.
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.