Human Gene Mutation
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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.
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.
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.
Crumbling Genome
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Author : Alexey S. Kondrashov
language : en
Publisher: John Wiley & Sons
Release Date : 2017-05-16
Crumbling Genome written by Alexey S. Kondrashov and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-05-16 with Science categories.
A thought-provoking exploration of deleterious mutations in the human genome and their effects on human health and wellbeing Despite all of the elaborate mechanisms that a cell employs to handle its DNA with the utmost care, a newborn human carries about 100 new mutations, originated in their parents, about 10 of which are deleterious. A mutation replacing just one of the more than three billion nucleotides in the human genome may lead to synthesis of a dysfunctional protein, and this can be inconsistent with life or cause a tragic disease. Several percent of even young people suffer from diseases that are caused, exclusively or primarily, by pre?]existing and new mutations in their genomes, including both a wide variety of genetically simple Mendelian diseases and diverse complex diseases such as birth anomalies, diabetes, and schizophrenia. Milder, but still substantial, negative effects of mutations are even more pervasive. As of now, we possess no means of reducing the rate at which mutations appear spontaneously. However, the recent flood of genomic data made possible by next-generation methods of DNA sequencing, enabled scientists to explore the impacts of deleterious mutations on humans with previously unattainable precision and begin to develop approaches to managing them. Written by a leading researcher in the field of evolutionary genetics, Crumbling Genome reviews the current state of knowledge about deleterious mutations and their effects on humans for those in the biological sciences and medicine, as well as for readers with only a general scientific literacy and an interest in human genetics. Provides an extensive introduction to the fundamentals of evolutionary genetics with an emphasis on mutation and selection Discusses the effects of pre-existing and new mutations on human genotypes and phenotypes Provides a comprehensive review of the current state of knowledge in the field and considers crucial unsolved problems Explores key ethical, scientific, and social issues likely to become relevant in the near future as the modification of human germline genotypes becomes technically feasible Crumbling Genome is must-reading for students and professionals in human genetics, genomics, bioinformatics, evolutionary biology, and biological anthropology. It is certain to have great appeal among all those with an interest in the links between genetics and evolution and how they are likely to influence the future of human health, medicine, and society.
Human Gene Evolution
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Author : David Neil Cooper
language : en
Publisher: Elsevier
Release Date : 1999-11-03
Human Gene Evolution written by David Neil Cooper and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 1999-11-03 with Science categories.
Presents the principles of human gene evolution in a concise and easy to understand fashion. Uses examples of how evolutionary processes have molded present day genes, drawn from the evolution of humans and other primates, as well as from more primitive organisms. With increasing attention in this expanding area, this review forms a timely publication of our current knowledge of this important field. Structure and function in the human genome The evolution of gene structure Mutational mechanisms in evolution
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.
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.
Variation In The Human Genome
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Author : Derek J. Chadwick
language : en
Publisher: John Wiley & Sons
Release Date : 2008-04-30
Variation In The Human Genome written by Derek J. Chadwick and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-04-30 with Science categories.
The mapping of human genes is proceeding rapidly. Genes associated with specific inherited diseases are being identified, often providing insight into the molecular cause of the disease. At the moment, however, little consideration is being given to the variation present in different human populations. Variation in the Human Genome discusses methods of analysing population genetic data and how contemporary genetic heterogeneity arises during the evolution and migration of human populations. Specific disorders such as cystic fibrosis, beta-thalassaemia, fragile X, phenylketonuria and tumour development susceptibility are used to illustrate this genetic variability and mechanisms of gene mutation and evolution.
Understanding The Human Genome
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Author : Kristi Lew
language : en
Publisher: Enslow Publishing, LLC
Release Date : 2018-07-15
Understanding The Human Genome written by Kristi Lew and has been published by Enslow Publishing, LLC this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-07-15 with Young Adult Nonfiction categories.
Completed in April 2003, the Human Genome Project was an international effort to map out and read all the genes that make up Homo sapiens. This book supports the Next Generation Science Standards on heredity and biological evolution by examining the history of genetics and the Human Genome Project, the mechanisms behind heredity, and the types of genetic errors that lead to hereditary diseases. Through simplified explanations of complex scientific concepts, full-color images, and informative sidebars, students will also learn about the ethical issues associated with the program as well how the information gained from the research has given rise to individualized medical tests and treatments.
How The Human Genome Works
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Author : Edwin H. McConkey
language : en
Publisher: Jones & Bartlett Learning
Release Date : 2004
How The Human Genome Works written by Edwin H. McConkey and has been published by Jones & Bartlett Learning this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with Genetic disorders categories.
This book covers the exxential principles of genetics in a readable, accessible format using real-life examples of the way genes affect human behavior, health and illness, development and evolution.