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An Introduction To Human Molecular Genetics

Autor: Jack J. Pasternak
Publisher: John Wiley & Sons
ISBN: 047171917X
File Size: 7,24 MB
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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.

Human Molecular Genetics

Autor:
Publisher: Academic Press
ISBN: 0080536417
File Size: 25,23 MB
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Human Molecular Genetics is a practical guide to the applications of molecular biology and genetics techniques to human cells. A wide range of experimental procedures for investigating human genes and genomes are presented. * * Mutation Detection in Human Genes - chemical mismatch cleavage, DNA mini-sequencing, SSCP method, RT-PCR, electrophoretic mobility shift assay (EMSA), protein truncation test, chromosome deletion analysis. * Gene Mapping, Cloning, Sequencing - gene linkage determination, large-capacity cloning system, cDNA isolation, differential display method, primer-based DNA sequencing. * Transcription: Promoters, Transcription Factors, mRNA, - promotor mutation analysis, transcription factor identification, mRNA-protein interaction characterization. * RNA Editing, Ribozymes, Antisense RNA-mammalian RNA editing assays, ribozymes as genetic tools, antisense RNA technology. * Genome Recombination, Amplification - recombination assays for mammalian cells, gene amplification measurement. * Receptors, Signal Transduction - intra-cellular receptor characterization, analysis of signal transduction genes. * The Mouse as a Model System for Human Molecular Genetics - mouse genome methods (mouse crosses, somatic cell hybrids, YACs), mouse model for cardiovascular disease.

Human Molecular Genetics 3

Autor: T. Strachan
Publisher: Garland Science
ISBN: 9780815341840
File Size: 25,52 MB
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Professors Tom Strachan & Andrew Read awarded the Education Award 2007 of the ESHG for their outstanding contribution to the dispersal of knowledge of modern human molecular genetics among students and professionals. Following the completion of the Human Genome Project the content and organization of the third edition of Human Molecular Genetics has been thoroughly revised. * Part One (Chapters 1-7) covers basic material on DNA structure and function, chromosomes, cells and development, pedigree analysis and the basic techniques used in the laboratory. * Part Two (Chapters 8-12) discusses the various genome sequencing projects and the insights they provide into the organisation, expression, variation and evolution of our genome. * Part Three (Chapters 13-18) focuses on mapping, identifying and diagnosing the genetic causes of mendelian and complex diseases and cancer. * Part Four (Chapters 19-21) looks at the wider horizons of functional genomics, proteomics, bioinformatics, animal models and therapy. There are new chapters on cells and development and on functional genomics. The sections on complex diseases have been completely rewritten and reorganized, as has the chapter on Genome Projects. Other changes include a new section on molecular phylogenetics (Chapter 12) and the introduction of 'Ethics Boxes' to discuss some of the implications of the new knowledge. Virtually every page has been revised and updated to take account of the stunning developments of the past four years since the publication of the last edition of Human Molecular Genetics. Features: * Integration of Human Genome Project data throughout the book * Two new chapters 'Cells and Development' (Chapter 3) and 'Beyond the Genome Project: Functional Genomics, Proteomics and Bioinformatics' (Chapter 19) * Completely rewritten and reorganised coverage of complex disease genetics * Increased emphasis on gene function and on applications of genetic knowledge, including ethical issues * More prominence given to novel approaches to treating disease, such as cell-based therapies, pharmacogenomics, and personalised medicine * Special topic boxes that include detailed coverage of ethical, legal and social issues, including eugenics, genetic testing and discrimination, germ-line gene therapy and genetic enhancement, and human cloning * Contains two indices: a general index and one that contains names of diseases and disorders Supplements: Art of HMG3 (CD-ROM) 0-8153-4183-0: £34.00

Protocols In Human Molecular Genetics

Autor: Christopher G. Mathew
Publisher: Springer Science & Business Media
ISBN: 1592594964
File Size: 24,93 MB
Format: PDF
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Protocols in Human Molecular Genetics highlights the tremendous advances in our ability to work on the human genome that have emerged in the past few years. The latest techniques are set forth in the clear, concise, easy-to-follow format that is the hallmark of Humana's Methods in Molecular Biology series. Nearly two-thirds of the book is devoted to describing practical procedures comprising the widest range of new methodologies in human molecular genetics, with the rest focusing on their specific experimental and clinical applications. An essential tool for everyone - whether novice or seasoned expert - involved in the rapidly growing area of human genome studies.

Human Molecular Genetics

Autor: Tom Strachan
Publisher: Garland Science
ISBN: 1136844074
File Size: 19,95 MB
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Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative and integrated approach to the molecular aspects of human genetics. While maintaining the hallmark features of previous editions, the Fourth Edition has been completely updated. It includes new Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter, to help readers navigate the wealth of information in this subject. The text has been restructured so genomic technologies are integrated throughout, and next generation sequencing is included. Genetic testing, screening, approaches to therapy, personalized medicine, and disease models have been brought together in one section. Coverage of cell biology including stem cells and cell therapy, studying gene function and structure, comparative genomics, model organisms, noncoding RNAs and their functions, and epigenetics have all been expanded.

Molecular Genetics And The Human Personality

Autor: Jonathan Benjamin
Publisher: American Psychiatric Pub
ISBN: 9781585627608
File Size: 22,49 MB
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In the 1960's and 1970's, personality and mental illness were conceptualized in an intertwined psychodynamic model. Biological psychiatry for many un-weaved that model and took mental illness for psychiatry and left personality to psychology. This book brings personality back into biological psychiatry, not merely in the form of personality disorder but as part of a new intertwined molecular genetic model of personality and mental disorder. This is the beginning of a new conceptual paradigm!! This breakthrough volume marks the beginning of a new era, an era made possible by the electrifying pace of discovery and innovation in the field of molecular genetics. In fact, several types of genome maps have already been completed, and today's experts confidently predict that we will have a smooth version of the sequencing of the human genome -- which contains some 3 billion base pairs Such astounding progress helped fuel the development of this remarkable volume, the first ever to discuss the brand-new -- and often controversial -- field of molecular genetics and the human personality. Questioning, critical, and strong on methodological principles, this volume reflects the point of view of its 35 distinguished contributors -- all pioneers in this burgeoning field and themselves world-class theoreticians, empiricists, clinicians, developmentalists, and statisticians. For students of psychopathology and others bold enough to hold in abeyance their understandable misgivings about the conjunction of "molecular genetics" and "human personality," this work offers an authoritative and up-to-date introduction to the molecular genetics of human personality. The book, with its wealth of facts, conjectures, hopes, and misgivings, begins with a preface by world-renowned researcher and author Irving Gottesman. The authors masterfully guide us through Chapter 1, principles and methods; Chapter 4, animal models for personality; and Chapter 11, human intelligence as a model for personality, laying the groundwork for our appreciation of the remaining empirical findings of human personality qua personality. Many chapters (6, 7, 9, 11, and 13) emphasize the neurodevelopmental and ontogenetic aspects of personality, with a major emphasis on the receptors and transporters for the neurotransmitters dopamine and serotonin. Though these neurotransmitters are a rational starting point now, the future undoubtedly will bring many other candidate genes that today cannot even be imagined, given our ignorance of the genes involved in the prenatal development of the central nervous system. Chapter 3 provides an integrative overview of the broad autism phenotype, and as such will be of special interest to child psychiatrists. Chapters 5, 8, and 10 offer enlightening information on drug and alcohol abuse. Chapter 14 discusses variations in sexuality. Adding balance and mature perspectives on how all the chapters complement and sometimes challenge one another are Chapter 2, written by a major figure in the renaissance of the relevance to psychopathology of both genetics and personality; Chapters 15-17, informed critical appraisals citing concerns and cautions about premature applications of this information in the policy arena; and Chapter 18, a judicious contemplation by the editors themselves of this promising -- and, to some, alarming -- field. Clear and meticulously researched, this eminently satisfying work is written to introduce the subject to postgraduate students just beginning to develop their research skills, to interested psychiatric practitioners, and to informed laypersons with some scientific background.

Human Molecular Genetics

Autor: Peter Sudbery
Publisher: Benjamin-Cummings Publishing Company
ISBN: 9780132051576
File Size: 12,80 MB
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This third edition of Human Molecular Genetics continues to provide a clear introduction to this complex and fast moving field. Now updated and revised throughout, the material covered has been carefully selected and structured to provide a concise overview for students studying the subject as part of a general biology, genetics or medical degree. The text is aimed at courses in Human Genetics, Human Molecular Genetics and The Molecular Basis of Disease taught within Biology, Biochemistry, Biomolecular Sciences, Biomedical Sciences, Genetics and medical and other health-care degrees.

Genotype To Phenotype

Autor: Sue Malcolm
Publisher: Gulf Professional Publishing
ISBN: 9780124662575
File Size: 22,58 MB
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This volume of the Human Molecular Genetics series covers such genotype-phenotype correlations as clinical and environmental aspects, gene structure, expression, and mutation. Also discussed are models of certain diseases and future prospects for treatment and prevention. This book provides the reader with a basic overview of the physical expression of genetic disease before discussing in detail the most recent research and therapeutic developments.

Genetics And Genomics In Medicine

Autor: Tom Strachan
Publisher: Taylor & Francis
ISBN: 1317594304
File Size: 4,32 MB
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Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti

Human Evolutionary Genetics Second Edition

Autor: Mark Jobling
Publisher: Garland Science
ISBN: 131795226X
File Size: 22,56 MB
Format: PDF
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Now in full-color, the Second Edition of Human Evolutionary Genetics has been completely revised to cover the rapid advances in the field since publication of the highly regarded First Edition. Written for upper-level undergraduate and graduate students, it is the only textbook to integrate genetic, archaeological, and linguistic perspectives on human evolution, and to offer a genomic perspective, reflecting the shift from studies of specific regions of the genome towards comprehensive genomewide analyses of human genetic diversity. Human Evolutionary Genetics is suitable for courses in Genetics, Evolution, and Anthropology. Those readers with a background in anthropology will find that the streamlined genetic analysis material contained in the Second Edition is more accessible. The new edition also integrates new technologies (including next-generation sequencing and genome-wide SNP typing) and new data analysis methods, including recent data on ancient genomes and their impact on our understanding of human evolution. The book also examines the subject of personal genomics and its implications.

Molecular And Genetic Analysis Of Human Traits

Autor: Gustavo Maroni
Publisher: John Wiley & Sons
ISBN: 0470759801
File Size: 11,75 MB
Format: PDF
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Molecular and Genetic Analysis of Human Traits will address the science student human genetics market. Although incorporating two basic themes: how do we establish that a trait is hereditary, and how is the human genome organized, it will also address relevant clinical examples and key related ethical issues. New attractive features have been added, including a chapter project, and end of chapter exercises which rely on real data. Each chapter includes end of chapter exercises, and references. In-text examples and internet references are cited. Most figures will be 2 color, with some 4 color inserts.

Human Genetics And Genomics

Autor: Bruce R. Korf
Publisher: John Wiley & Sons
ISBN: 1118537661
File Size: 13,85 MB
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This fourth edition of the best-selling textbook, HumanGenetics and Genomics, clearly explains the key principlesneeded by medical and health sciences students, from the basis ofmolecular genetics, to clinical applications used in the treatmentof both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics,focuses on introducing the reader to key concepts such as Mendelianprinciples, DNA replication and gene expression. Part 2,Genetics and Genomics in Medical Practice, uses case scenarios tohelp you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics andGenomics has been rigorously updated to reflect today’sgenetics teaching, and includes updated discussion of genetic riskassessment, “single gene” disorders andtherapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latestdevelopments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thoughtand discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with thepracticalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (includedin the price of the book), Human Genetics and Genomics isalso fully supported by a suite of online resources at ahref="http://www.korfgenetics.com/"www.korfgenetics.com/a,including: Factsheets on 100 genetic disorders, ideal for study and exampreparation Interactive Multiple Choice Questions (MCQs) with feedback onall answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal forteaching purposes The perfect companion to the genetics component of bothproblem-based learning and integrated medical courses, HumanGenetics and Genomics presents the ideal balance between thebio-molecular basis of genetics and clinical cases, and provides aninvaluable overview for anyone wishing to engage with thisfast-moving discipline.

Craniosynostoses

Autor: M. Muenke
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805595956
File Size: 27,37 MB
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Craniosynostosis - the premature fusion of the cranial sutures of an infant’s skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in specialized hospitals and clinical units.This book represents a comprehensive overview on the subject of craniosynostosis. Its 19 excellent chapters were written by the foremost authorities in the field for a wide range of readers. They cover topics including a historical review, basic biological and molecular studies, the various common and uncommon syndromes, nonsyndromic craniosynostoses, genetic testing, prenatal ultrasonography, and recent methods of neurosurgical and maxillofacial treatment. Both investigators at the bench and clinicians at the operating table will appreciate this timely book which will be the definitive volume on craniosynostosis for many years to come.

Living In A Microbial World

Autor: Bruce Hofkin
Publisher: Garland Science
ISBN: 1136844007
File Size: 21,27 MB
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Living in a Microbial World is a textbook written for students taking a general microbiology or microbiology-themed course for non-science majors. It teaches the essential concepts of microbiology through practical examples and a conversational writing style intended to make the material accessible to a wide audience. In order to make the science relevant to students, every chapter of the book contains a series of cases intended to motivate learning the microbiology concepts. The cases present microbiology in the news, in history, in literature, and in scenarios of everyday life. Each case ends with several questions intended to pique student interest, and those questions are answered in the next section of the chapter.By clearly and succinctly explaining the fundamentals of microbiology through practical examples, the book provides a scientific framework through which students can understand critical issues about microorganisms and disease that they will encounter throughout their lives. They will learn the role that microorganisms play not only in our health but also in ecosystem processes, our diet, industrial production, and human history. Topics that we hear about every day, from global warming to energy independence to bioterrorism, all have a microbial angle. This text is designed to provide the reader with the background needed to understand and discuss such topics with a genuine understanding rooted in science.

Hla And Mhc

Autor: Michael Browning
Publisher:
ISBN: 9780122204388
File Size: 5,96 MB
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The major histocompatibility complex (MHC) and its gene products have a major impact on health and disease through their central role in the regulation of the immune response. While the MHC has evolved as part of the host's defense strategy to protect against infection with pathogenic microorganisms, its gene products also form the major targets for rejection of allogenetic tissues in organ transplantation and susceptibility to a variety of diseases. This complex role in the health of the host has made the MHC the focus of attention in many fields of biological research. HLA and MHC: Genes, Molecules and Function is an authoritative review of the major histocompatibility complex, from the molecular genetics of the MHC through the structure and function of MHC-encoded molecules and their role in health and disease. The emphasis is on the human MHC, but relevant animal studies are also included to provide a comprehensive coverage of the subject. Internationally recognized experts in their respective fields of research have contributed individual chapters. This major new publication will be of interest not only to immunologists, but also to scientists and clinicians in a wide range of fields in which immune response plays a role.

A Guide To Genetic Counseling

Autor: Wendy R. Uhlmann
Publisher: John Wiley & Sons
ISBN: 1118210530
File Size: 16,16 MB
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The first book devoted exclusively to the principles andpractice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counselingquickly became a bestselling and widely recognized text, usednationally and internationally in genetic counseling trainingprograms. Now in its eagerly anticipated Second Edition, itprovides a thoroughly revised and comprehensive overview of geneticcounseling, focusing on the components, theoretical framework, andunique approach to patient care that are the basis of thisprofession. The book defines the core competencies and covers thegenetic counseling process from case initiation tocompletion—in addition to addressing global professionalissues—with an emphasis on describing fundamental principlesand practices. Chapters are written by leaders in the field of geneticcounseling and are organized to facilitate academic instruction andskill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs onthe syllabi of all medical and human genetics and geneticcounseling training programs. It is an indispensable reference forboth students and healthcare professionals working with patientswho have or are at risk for genetic conditions.

Viral Gene Techniques

Autor:
Publisher: Elsevier
ISBN: 0080536409
File Size: 14,93 MB
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Viral Gene Techniques is a practical laboratory guide to current techniques of molecular biology and genetics. The volume is concerned with methods for the analysis of viral genes and chromosomes: DNA viruses and RNA viruses including HIV are discussed. * Methods presented for ease of use and reasdy adaptation to new systems * Detailed experimental protocols included for: * Viral vectors - construction and use of DNA virus vectors (adenovirus, adeno-associated virus, vaccinia virus, Epstein - Barr virus) * DNA viruses - virus/host interactions, viral chromosomes , transcription regulation (viruses discussed include herpes simplex, hepatitis B, SV40, JC, Epstein-Barr, adenovirus) * Human Immunodeficiency Virus / retroviruses -quantitation of HIV-1 virus stock and RNA, retrovirus reverse transcription / integration, retrovirus-mediated cell fusion, use as cell lineage markers * RNA viruses - RNA virus assembly, analysis of RNA genomes, assays for RNA-binding proteins (viruses discussed include poliovirus, influenza virus, hepatitis delta virus)

Protocols In Human Molecular Genetics

Autor: Christopher G. Mathew
Publisher: Springer Science & Business Media
ISBN: 1592594964
File Size: 11,10 MB
Format: PDF, Mobi
Read: 8332
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Protocols in Human Molecular Genetics highlights the tremendous advances in our ability to work on the human genome that have emerged in the past few years. The latest techniques are set forth in the clear, concise, easy-to-follow format that is the hallmark of Humana's Methods in Molecular Biology series. Nearly two-thirds of the book is devoted to describing practical procedures comprising the widest range of new methodologies in human molecular genetics, with the rest focusing on their specific experimental and clinical applications. An essential tool for everyone - whether novice or seasoned expert - involved in the rapidly growing area of human genome studies.

The Molecules Of Life

Autor: John Kuriyan
Publisher: Garland Science
ISBN: 1135088926
File Size: 24,78 MB
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The field of biochemistry is entering an exciting era in which genomic information is being integrated into molecular-level descriptions of the physical processes that make life possible. The Molecules of Life is a new textbook that provides an integrated physical and biochemical foundation for undergraduate students majoring in biology or health s