Прочая образовательная литература
Различные книги в жанре Прочая образовательная литератураGenetic Analysis of Complex Disease
Second Edition features the latest tools for uncovering the genetic basis of human disease The Second Edition of this landmark publication brings together a team of leading experts in the field to thoroughly update the publication. Readers will discover the tremendous advances made in human genetics in the seven years that have elapsed since the First Edition. Once again, the editors have assembled a comprehensive introduction to the strategies, designs, and methods of analysis for the discovery of genes in common and genetically complex traits. The growing social, legal, and ethical issues surrounding the field are thoroughly examined as well. Rather than focusing on technical details or particular methodologies, the editors take a broader approach that emphasizes concepts and experimental design. Readers familiar with the First Edition will find new and cutting-edge material incorporated into the text: Updated presentations of bioinformatics, multiple comparisons, sample size requirements, parametric linkage analysis, case-control and family-based approaches, and genomic screening New methods for analysis of gene-gene and gene-environment interactions A completely rewritten and updated chapter on determining genetic components of disease New chapters covering molecular genomic approaches such as microarray and SAGE analyses using single nucleotide polymorphism (SNP) and cDNA expression data, as well as quantitative trait loci (QTL) mapping The editors, two of the world's leading genetic epidemiologists, have ensured that each chapter adheres to a consistent and high standard. Each one includes all-new discussion questions and practical examples. Chapter summaries highlight key points, and a list of references for each chapter opens the door to further investigation of specific topics. Molecular biologists, human geneticists, genetic epidemiologists, and clinical and pharmaceutical researchers will find the Second Edition a helpful guide to understanding the genetic basis of human disease, with its new tools for detecting risk factors and discovering treatment strategies.
An Introduction to Human Molecular Genetics
An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems. All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly incorporated into the text. The first part of the text introduces readers to the fundamentals of cytogenetics and Mendelian genetics. Next, techniques and strategies for gene manipulation, mapping, and isolation are examined. Readers will particularly appreciate the text's exceptionally thorough and clear explanation of genetic mapping. The final part features unique coverage of the molecular genetics of distinct biological systems, covering muscle, neurological, eye, cancer, and mitochondrial disorders. Throughout the text, helpful figures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text's same lucid and engaging style, and will find a wealth of new and expanded material that brings them fully up to date with a current understanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting, and human population genetics * Expanded and fully revised section on clinical genetics, covering diagnostic testing, molecular screening, and various treatments This text is targeted at upper-level undergraduate students, graduate students, and medical students. It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases.
The Science and Ethics of Engineering the Human Germ Line
With implications that go to the core of what it means to be human, the issues raised by genetic manipulation-especially cloning-have sparked a passionate debate among governmental, religious, and scientific quarters, as well as the media and the general public. Keeping to the actual science rather than speculation is of the utmost importance for an enlightened approach to this weighty discussion. In clear, lively prose, The Science and Ethics of Engineering the Human Germ Line: Mendel's Maze provides an authoritative treatment of the principles of science and bioethics that bear upon such technologies as germ-line insertion and cloning. It offers a realistic assessment of possible applications, limitations, and new developments likely to arise in these areas. Written by a top physician-investigator, this book progresses from the basics of building a living organism from inanimate parts through to recombinant DNA technology, assisted reproductive technologies, and gene transfer and germ-line engineering. Ethical considerations are woven into this material throughout, while a special section covers the intellectual role played by various social biases. As genetic and reproductive technologies spread from the laboratory to the clinic-and society takes further notice-students and practitioners of biology and medicine, as well as the interested general reader, will find The Science and Ethics of Engineering the Human Germ Line: Mendel's Maze to be an essential and accessible guide to these important subjects.
Molecular Epidemiology of Chronic Diseases
I think this is an excellent book–I recommend it to anyone involved in molecular epidemiology… The 26 chapters are written by topic specialists, in an explanatory, east to read style. –BTS Newsletter, Summer 2009 «This text provides an accessible and useful handbook for the epidemiologist who wants to survey the field, to become better informed, to look at recent developments and get some background on these or simply to appreciate further the relatively rapid changes in informatic and analytical technologies which increasingly will serve and underpin future epidemiological studies. One of the strengths in this book is the extensive array of practical illustrative examples, and it would also in my opinion have useful potential as a teaching text.» –American Journal of Human Biology, March 2009 With the sequencing of the human genome and the mapping of millions of single nucleotide polymorphisms, epidemiology has moved into the molecular domain. Scientists can now use molecular markers to track disease-associated genes in populations, enabling them to study complex chronic diseases that might result from the weak interactions of many genes with the environment. Use of these laboratory generated biomarker data and an understanding of disease mechanisms are increasingly important in elucidating disease aetiology. Molecular Epidemiology of Disease crosses the disciplinary boundaries between laboratory scientists, epidemiologists, clinical researchers and biostatisticians and is accessible to all these relevant research communities in focusing on practical issues of application, rather than reviews of current areas of research. Covers categories of biomarkers of exposure, susceptibility and disease Includes chapters on novel technologies: genomics, transcriptomics, proteomics and metabonomics, which are increasingly finding application in population studies Emphasizes new statistical and bioinformatics approaches necessitated by the large data sets generated using these new methodologies Demonstrates the potential applications of laboratory techniques in tackling epidemiological problems while considering their limitations, including the sources of uncertainty and inaccuracy Discusses issues such as reliability (compared to traditional epidemiological methods) and the timing of exposure Explores practical elements of conducting population studies, including biological repositories and ethics Molecular Epidemiology of Disease provides an easy-to-use, clearly presented handbook that allows epidemiologists to understand the specifics of research involving biomarkers, and laboratory scientists to understand the main issues of epidemiological study design and analysis. It also provides a useful tool for courses on molecular epidemiology, using many examples from population studies to illustrate key concepts and principles.
Postimplantation Development in the Mouse
Examines the establishment of the germ layers and other cell lineages in the early embryo including details of cell movements during the beginning stages of primitive streak formation. Discusses patterns of gene expression during the development of such tissues as the limb bud, skeletal, muscle and the central nervous systems placing special emphasis on commitment to particular cell types. Although it concentrates on the mouse as an example of mammalian development–chick, amphibian and Drosophila embryogenesis are employed whenever these organisms are more applicable to the study of a particular problem.
Genetic Analysis of Tumour Suppression
Comprises the proceedings of a symposium held at the Ciba Foundation, London, February 1988. Contains the latest research results on the inverse relationship between cell proliferation and differentiation and the nature of the genes involved. Included are the studies of cell fusion experiments, the introduction of single chromosomes into malignant cells, and the transfection of individual genes. Also reports on the role of certain oncogenes in normal development, lineage commitment, and tumorigenesis.
Proteomic Biology Using LC/MS
This is one of the first books to focus on the dynamic aspect of proteomes. The book introduces proteomics to the newcomer, reviews the theoretical aspects of proteomics and its state-of-the art technologies, along with a number of biological applications using «classical» proteomic technology. The book also presents a new concept, the Dynamome, or the expression of a comprehensive molecular set that participates in the whole dynamic process of a series of cellular events.
Analysis of Genes and Genomes
This beautifully illustrated textbook provides a clear guide to the tools and techniques of genetic engineering, gene cloning and molecular biology. All aspects of genetic engineering in the post-genomic era are covered, beginning with the basics of DNA structure and DNA metabolism. Using an example-driven approach, the fundamentals of creating mutations in DNA, cloning in bacteria, yeast, plants and animals are all clearly presented. Strong emphasis is placed on the latest, post genomic technologies including DNA macro and microarrays, genome-wide two hybrid analysis, proteomics and bioinformatics. A modern post-genome era introduction to key techniques used in genetic engineering. An example driven past-to-present approach to allow the experiments of today to be placed in an historical context The book is beautifully illustrated in full-colour throughout. Associated website including updates, additional content and illusions
Embryos, Genes and Birth Defects
The first edition of Embryos, Genes and Birth Defects, edited by the late Peter Thorogood, was a radical new book aimed at bridging the gap between the medical disciplines of embryology and dysmorphology, and recent advances in cellular, molecular and developmental biology. This new edition remains unique in its breadth and brings up to date our understanding of birth defects and of the strategies utilized to gain such knowledge. It features new chapters on human cytogenetics, mutagenesis and the eyes and ears. The book presents key topics in developmental biology and explains how they provide the foundations for understanding clinical birth defects. The first six chapters introduce concepts and strategies adopted to elucidate developmental anomalies leading to birth defects. The book then focuses on specific organs and reviews the cellular and molecular mechanisms affecting their development and how disruption of these mechanisms by genetic or environmental factors may underlie certain birth defects. The chapters are concise and provide up-to-date coverage of topics in a format that is easily accessible and yet at the forefront of research. Written primarily for paediatricians, obstetricians, clinical geneticists and allied workers, this book guides the reader through the contribution of modern molecular biology to our understanding of human development. Developmental and cellular biologists will learn how errors in the cellular and genetic mechanism can lead to classical disorders, diseases and syndromes.
Population Genetics and Microevolutionary Theory
The advances made possible by the development of molecular techniques have in recent years revolutionized quantitative genetics and its relevance for population genetics. Population Genetics and Microevolutionary Theory takes a modern approach to population genetics, incorporating modern molecular biology, species-level evolutionary biology, and a thorough acknowledgment of quantitative genetics as the theoretical basis for population genetics. Logically organized into three main sections on population structure and history, genotype-phenotype interactions, and selection/adaptation Extensive use of real examples to illustrate concepts Written in a clear and accessible manner and devoid of complex mathematical equations Includes the author's introduction to background material as well as a conclusion for a handy overview of the field and its modern applications Each chapter ends with a set of review questions and answers Offers helpful general references and Internet links