PCR Mutation Detection Protocols
PCR Mutation Detection Protocols

Author: Bimal D. M. Theophilus

Publisher: Springer

Published: 2010-10-28

Total Pages: 224

ISBN-13: 9781617371004

DOWNLOAD EBOOK

1Bimal D. Theophilus and Ralph Rapley provide biological and clinical investigators with a comprehensive collection of new, recent, and updated PCR-based screening methods suitable for detecting the presence of both known and novel mutations. The methods cover point mutations (e.g., ASO-PCR, SSCP, DGGE, chemical cleavage), deletions (multiplex PCR, FISH, blotting), non-sense mutations (PTT), and more. The new and exciting techniques of DNA array analysis, along with such recently developed experimental methods as conformation-sensitive gel electrophoresis, are also included. Each chapter explains the basic theory behind the technique and provides valuable notes essential for its successful execution.

Mutation Detection
Mutation Detection

Author: R. G. H. Cotton

Publisher: IRL Press

Published: 1998-02-05

Total Pages: 266

ISBN-13: 0191565695

DOWNLOAD EBOOK

Mutation detection is increasingly undertaken in a wide spectrum of research areas: in medicine it is fundamental in isolating disease genes and diagnbosis, and is especially important in cancer research; in biology, commercially important genes can be identified by the mutations they contain. But mutation detection is time-consuming and expensive. This volume offers the latest tried and tested protocols for a range of detection methods, from the labs of the leading researchers in the field.

Mutagenicity: Assays and Applications
Mutagenicity: Assays and Applications

Author: Ashutosh Kumar

Publisher: Academic Press

Published: 2017-09-26

Total Pages: 352

ISBN-13: 0128092602

DOWNLOAD EBOOK

Mutagenicity: Assays and Applications presents an extensive examination of the detection, assessment and future of mutagenicity, particularly as it concerns human health and the environment. Chapters focused on specific types of mutagens or testing methods for their detection collectively explore the current state of human and environmental mutagenesis, future perspectives and regulatory needs. The test procedures for measuring mutagenicity, their advantages and limitations are described with practical and procedural detail, along with their presentation and data processing aspects. It is an essential reference covering the breadth and depth of the field of mutagenicity studies and regulation. By providing both important introductory material and practical assays and applications, this book is useful to graduate students, academic and industry researchers and regulators at various stages of their careers, leading to improved risk assessment and regulation. - Presents an up-to-date and in-depth review of the current state of mutagenesis research - Draws upon the combined experience and expertise of an international group of highly respected editors and chapter authors - Provides an introduction to the concept of mutagenesis with particular consideration given to novel chemicals and materials

Molecular Diagnostics
Molecular Diagnostics

Author: William B. Coleman

Publisher: Springer Science & Business Media

Published: 2007-10-28

Total Pages: 593

ISBN-13: 1592599281

DOWNLOAD EBOOK

Accompanying CD-ROM contains ... "a companion eBook version of Molecular diagnostics : for the clinical laboratorian, Second edition ... for downloading and use in the reader's PC or PDA."--Page 4 of cover.

Biotechnologies for Plant Mutation Breeding
Biotechnologies for Plant Mutation Breeding

Author: Joanna Jankowicz-Cieslak

Publisher: Springer

Published: 2016-12-08

Total Pages: 343

ISBN-13: 3319450212

DOWNLOAD EBOOK

This book is open access under a CC BY-NC 2.5 license. This book offers 19 detailed protocols on the use of induced mutations in crop breeding and functional genomics studies, which cover topics including chemical and physical mutagenesis, phenotypic screening methods, traditional TILLING and TILLING by sequencing, doubled haploidy, targeted genome editing, and low-cost methods for the molecular characterization of mutant plants that are suitable for laboratories in developing countries. The collection of protocols equips users with the techniques they need in order to start a program on mutation breeding or functional genomics using both forward and reverse-genetic approaches. Methods are provided for seed and vegetatively propagated crops (e.g. banana, barley, cassava, jatropha, rice) and can be adapted for use in other species.

Assessing Genetic Risks
Assessing Genetic Risks

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1994-01-01

Total Pages: 353

ISBN-13: 0309047986

DOWNLOAD EBOOK

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Molecular Diagnosis of Genetic Diseases
Molecular Diagnosis of Genetic Diseases

Author: Rob Elles

Publisher: Springer Science & Business Media

Published: 2008-02-01

Total Pages: 392

ISBN-13: 1592594328

DOWNLOAD EBOOK

This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Mobilizing Mutations
Mobilizing Mutations

Author: Daniel Navon

Publisher: University of Chicago Press

Published: 2019-09-20

Total Pages: 409

ISBN-13: 022663809X

DOWNLOAD EBOOK

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.

PCR Mutation Detection Protocols
PCR Mutation Detection Protocols

Author: Bimal D. M. Theophilus

Publisher: Springer Science & Business Media

Published: 2008-02-02

Total Pages: 214

ISBN-13: 1592592732

DOWNLOAD EBOOK

1Bimal D. Theophilus and Ralph Rapley provide biological and clinical investigators with a comprehensive collection of new, recent, and updated PCR-based screening methods suitable for detecting the presence of both known and novel mutations. The methods cover point mutations (e.g., ASO-PCR, SSCP, DGGE, chemical cleavage), deletions (multiplex PCR, FISH, blotting), non-sense mutations (PTT), and more. The new and exciting techniques of DNA array analysis, along with such recently developed experimental methods as conformation-sensitive gel electrophoresis, are also included. Each chapter explains the basic theory behind the technique and provides valuable notes essential for its successful execution.