Mutations In Human Genetic Disease
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Mutations In Human Genetic Disease
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Author : David Cooper
language : en
Publisher: BoD – Books on Demand
Release Date : 2012-10-12
Mutations In Human Genetic Disease written by David Cooper and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-10-12 with Medical categories.
Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.
Mutations In Human Genetic Disease
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Author : David Cooper
language : en
Publisher: IntechOpen
Release Date : 2012-10-12
Mutations In Human Genetic Disease written by David Cooper and has been published by IntechOpen this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-10-12 with Medical categories.
Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.
Human Gene Mutation
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Author : David Neil Cooper
language : en
Publisher: Taylor & Francis
Release Date : 1993
Human Gene Mutation written by David Neil Cooper and has been published by Taylor & Francis this book supported file pdf, txt, epub, kindle and other format this book has been release on 1993 with Science categories.
Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
Genes In Medicine
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Author : I. Rasko
language : en
Publisher: Springer Science & Business Media
Release Date : 1994-09-30
Genes In Medicine written by I. Rasko and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994-09-30 with Medical categories.
This stimulating book bridges the gap between molecular biology and human genetics. Specifically written for medical students and human geneticists, it is a valuable guide to a rapidly moving field.
Mobilizing Mutations
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Author : Daniel Navon
language : en
Publisher: University of Chicago Press
Release Date : 2019-09-20
Mobilizing Mutations written by Daniel Navon and has been published by University of Chicago Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-09-20 with Medical categories.
With every passing year, more and more people learn that they or their young or unborn child carries a genetic mutation. But what does this mean for the way we understand a person? Today, genetic mutations are being used to diagnose novel conditions like the XYY, Fragile X, NGLY1 mutation, and 22q11.2 Deletion syndromes, carving out rich new categories of human disease and difference. Daniel Navon calls this form of categorization “genomic designation,” and in Mobilizing Mutations he shows how mutations, and the social factors that surround them, are reshaping human classification. Drawing on a wealth of fieldwork and historical material, Navon presents a sociological account of the ways genetic mutations have been mobilized and transformed in the sixty years since it became possible to see abnormal human genomes, providing a new vista onto the myriad ways contemporary genetic testing can transform people’s lives. Taking us inside these shifting worlds of research and advocacy over the last half century, Navon reveals the ways in which knowledge about genetic mutations can redefine what it means to be ill, different, and ultimately, human.
Heritable Human Genome Editing
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Author : The Royal Society
language : en
Publisher: National Academies Press
Release Date : 2021-01-16
Heritable Human Genome Editing written by The Royal Society and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-16 with Medical categories.
Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Technologies For Detecting Heritable Mutations In Human Beings
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Author :
language : en
Publisher:
Release Date : 1986
Technologies For Detecting Heritable Mutations In Human Beings written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1986 with Medical genetics categories.
Human Gene Mutation
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Author : David N. Cooper
language : en
Publisher:
Release Date : 1999
Human Gene Mutation written by David N. Cooper and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1999 with Science categories.
Enormous progress has recently been made in the analysis and diagnosis of human inherited disease and in the characterization of the underlying genes and their associated pathological lesions. Human Gene Mutation brings together for the first time a short history of mutation research, a comprehensive analysis of the nature of human gene mutation (single base-pair substitutions, deletions, splice site, promoter mutations, etc.), and an assessment of the consequences of mutation both at the level of gene expression and for the complex relationship between genotype and clinical phenotype. Laboratory methods for mutation detection and analysis and current possibilites in molecular diagnostic medicine are also reviewed. The central theme of this volume is the non-randomness of human gene mutation and its implications for both the nature and prevalence of genetic disease. The cognition that certain DNA sequences are hypermutable provides vital new clues as to the basic (and endogenous) mechanisms of mutagenesis. Novel explanatory and predictive models of mutagenesis are proposed. Together this constitutes a unique approach to understanding the ultimate causes of human genome pathology. This volume in the Human Molecular Genetics series is an important companion of all human molecular geneticists and genetic counsellors as well as interested clinicians and postgraduates.
Human Genetic Disease Analysis
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Author : Kay E. Davies
language : en
Publisher:
Release Date : 1993
Human Genetic Disease Analysis written by Kay E. Davies and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1993 with Medical categories.
This book covers all of the commonly used methods for the analysis and diagnosis of human genetic diseases. The chapters describe the analysis of gene mutations as well as the functional organization of genes and chromosomal regions, keeping up-to-date with recent advances in the field. Revisions in this second edition include sections on PCR and FISH. When the first edition of this book was published, prenatal diagnosis based on DNA analysis was performed in two weeks. The advent of PCR has allowed this process to be completed in just a few hours. PCR has had an impact in almost all areas of molecular medicine and thus all the chapters in this new edition have been significantly revised. The development of fluorescence in situ hybridization (FISH) has been important for both genome analysis and diagnosis. This revolutionary new technology is detailed in this volume. The book will be valuable for scientists working in a pure research environment as well as those in service laboratories analyzing different human disease mutations.
Human Genetic Diseases
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Author : Dijana Plaseska-Karanfilska
language : en
Publisher: BoD – Books on Demand
Release Date : 2011-10-03
Human Genetic Diseases written by Dijana Plaseska-Karanfilska and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-10-03 with Medical categories.
The genetics science is less than 150 years old, but its accomplishments have been astonishing. Genetics has become an indispensable component of almost all research in modern biology and medicine. Human genetic variation is associated with many, if not all, human diseases and disabilities. Nowadays, studies investigating any biological process, from the molecular level to the population level, use the "genetic approach" to gain understanding of that process. This book contains many diverse chapters, dealing with human genetic diseases, methods to diagnose them, novel approaches to treat them and molecular approaches and concepts to understand them. Although this book does not give a comprehensive overview of human genetic diseases, I believe that the sixteen book chapters will be a valuable resource for researchers and students in different life and medical sciences.