An Introduction to Human Molecular Genetics

Mechanisms of Inherited Diseases
Author: Jack J. Pasternak
Publisher: John Wiley & Sons
ISBN: 047171917X
Category: Science
Page: 656
View: 7612
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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 3


Author: T. Strachan,Andrew P. Read
Publisher: Garland Science
ISBN: 9780815341840
Category: Science
Page: 674
View: 1298
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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

Human Molecular Genetics


Author: Tom Strachan,Andrew Read
Publisher: Garland Science
ISBN: 1136844074
Category: Science
Page: 782
View: 445
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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.

Human Molecular Genetics


Author: Peter Sudbery,Ian Sudbery
Publisher: Benjamin-Cummings Publishing Company
ISBN: 9780132051576
Category: Education
Page: 445
View: 4477
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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.

Human Molecular Genetics


Author: Peter Sudbery
Publisher: Pearson Education
ISBN: 9780130428110
Category: Science
Page: 364
View: 8581
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This second 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. A milestone in science has been reached through the publication of draft sequences of the human genome and this is reflected in changes to the book. A new chapter details the methodology used, what was revealed about genome structure and evolution and how the genome sequence will be exploited in diagnosing and treating common diseases. The chapter on complex diseases has also been completely rewritten to reflect new strategies for searching for the genes involved in such disorders. Finally, the human genome project has opened up new prospects in population genetics and evolution and these are discussed in a rewritten chapter. Features * Concise, up-to-date introduction to the subject *Newchapters on sequencing and structure of the human genome *Newchapter on complex disorders, including population surveys using SNPs *Fully revisedchapter on human population genetics and evolution * Boxed case studies and techniques * Includes important genetic disorders and genetic counselling * References updated through a linked Web site. 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. Peter Sudbery is Senior Lecturer in Genetics at the Department of Molecular Biology and Biotechnology at the University of Sheffield. The Cell and Molecular Biology series provides introductions to key, exciting areas of cell and molecular biology, stimulating student's imaginations and initiative to bridge the gap between memorising concepts and the active approach needed for research and literature review projects. This active learning series also introduces students to experimental design and information retrieval and analysis, including exploration of the World Wide Web.

Protocols in Human Molecular Genetics


Author: Christopher G. Mathew
Publisher: Springer Science & Business Media
ISBN: 1592594964
Category: Science
Page: 461
View: 2647
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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


Author: N.A
Publisher: Academic Press
ISBN: 0080536417
Category: Science
Page: 500
View: 2610
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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, Textbook and Problems Set


Author: Tom Strachan,Andrew P. Read,David Matthes
Publisher: Wiley-Liss
ISBN: 9780471384151
Category: Science
Page: 576
View: 2339
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Cracking the Genome

Inside the Race to Unlock Human DNA
Author: Kevin Davies
Publisher: JHU Press
ISBN: 9780801871405
Category: Medical
Page: 327
View: 4931
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This newly updated edition sheds light on the secrets of the sequence, highlighting the myriad ways in which genomics will impact human health for generations to come.

Molecular Genetics and the Human Personality


Author: Jonathan Benjamin,Richard P. Ebstein,Robert H. Belmaker
Publisher: American Psychiatric Pub
ISBN: 9781585627608
Category: Medical
Page: 376
View: 9885
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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.