Mobilizing Mutations

Mobilizing Mutations PDF Author: Daniel Navon
Publisher: University of Chicago Press
ISBN: 022663809X
Category : Medical
Languages : en
Pages : 409

Book Description
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.

The Mutations

The Mutations PDF Author: Jorge Comensal
Publisher: Macmillan + ORM
ISBN: 0374718822
Category : Fiction
Languages : en
Pages : 155

Book Description
"Jorge Comensal's The Mutations oscillates masterfully between comedy and tragedy, gathering up in its pages a stupendous panoply of characters before whom the reader is never sure whether to smile in sympathy or pity."—Fernando Aramburu, author of Homeland Ramón Martinez is a militant atheist, successful lawyer, and conventional family man. But all of that changes when cancer of the tongue deprives him of the source of his power and livelihood: speech. The Mutations, by Jorge Comensal, is a comedy tracing the metastasis of Ramón’s cancer through his body and in the lives of his family members, colleagues, and doctors, dissecting the experience of illness and mapping the relationships both strengthened and frayed by its wake. Mateo and Paulina, his teenage children, struggle with the temptations of masturbation and binge eating, respectively. Ramón’s melancholic oncologist is haunted by the memory of a young patient whom he was unable to save. His selfish pathologist believes Ramón’s tumor holds the key to a major scientific breakthrough. And then there’s Elodia, Ramón’s pious maid, who brings him a foulmouthed parrot as a birthday gift. This lewd bird becomes Ramón’s companion, confidant, and unlikely double. Paying homage to the works of forebears such as Sontag, Didion, Flaubert, and Tolstoy, and filled with a rough-hewn poetry of regret, rage, and finally resignation, The Mutations offers a profound but funny cross section of modern Mexican life, as well as a bold treatment of an unspeakable yet universal reality

Mutation

Mutation PDF Author: Robin Cook
Publisher: Penguin
ISBN: 9780425119655
Category : Fiction
Languages : en
Pages : 356

Book Description
In this masterpiece of techno-medical suspense from the “master of the medical thriller” (The New York Times), Robin Cook tells the explosive tale of a brilliant doctor who sought to create the son of his dreams—and invented a living nightmare... When OB/GYN and biomolecular researcher Dr. Victor Frank learns of his wife’s infertility, he initiates a bold—and dangerous—experiment. Unbeknownst to everyone, including her, Dr. Frank has adapted the methods of animal husbandry and molecular genetics to human reproduction. Fusing his wife’s eggs and his own sperm, he sets in motion the production of a superior being, his child. The result of this experiment, a son, VJ, is born to a surrogate mother and legally adopted by the Franks. To their delight, their son is physically perfect, and by the age of three, displays the complex problem-solving abilities of a prodigy. Then, without warning, VJ’s intelligence level plunges to a point appropriate to his age, but stabilizes. For the moment, Dr. Frank can breathe a sigh of relief: even if VJ is no longer the genius he was, at least he will be normal. But that relief is tragically short-lived, for all too soon VJ begins to change again. And this time, there is no cause for comfort—only terror.

Mutations

Mutations PDF Author: Sam McPheeters
Publisher: Barnacle Book
ISBN: 9781947856981
Category : Music
Languages : en
Pages : 312

Book Description
How can so many people pledge allegiance to punk, something with no fixed identity? Depending on who and where you are, punk can be an outlet, excuse, lifestyle, escapism, conversation, community, ideology, sales category, social movement, punishable offense, badge of authenticity, reason to drink beer forever, or an aesthetic of belligerent incompetence. And if someone has a strong belief about what punk is, odds are they have even stronger feelings about what punk is not. Sam McPheeters championed many different versions. Over the course of two decades, he fronted Born Against, released dozens of records and fanzines, and toured seventeen times across the northern hemisphere. In this collection of essays, profiles, criticism, and personal history, he examines the diverse realms he intersected--New York hardcore, Riot Grrrl, Gilman street, the hidden enclaves of Olympia, and New England, and downtown Los Angeles--and the forces of mental illness and creative inspiration that drove him, and others, in the first place.

Crumbling Genome

Crumbling Genome PDF Author: Alexey S. Kondrashov
Publisher: John Wiley & Sons
ISBN: 1118952111
Category : Science
Languages : en
Pages : 309

Book Description
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.

Mutation-Driven Evolution

Mutation-Driven Evolution PDF Author: Masatoshi Nei
Publisher: OUP Oxford
ISBN: 0199661731
Category : Science
Languages : en
Pages : 261

Book Description
The purpose of this book is to present a new theory of mutation-driven evolution, which is based on recent advances in genomics and evolutionary developmental biology. This theory asserts that the driving force of evolution is mutation and natural selection is of secondary importance.

Biotechnologies for Plant Mutation Breeding

Biotechnologies for Plant Mutation Breeding PDF Author: Joanna Jankowicz-Cieslak
Publisher: Springer
ISBN: 3319450212
Category : Science
Languages : en
Pages : 343

Book Description
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.

Mutation

Mutation PDF Author: Elof Axel Carlson
Publisher:
ISBN: 9781936113309
Category : Science
Languages : en
Pages : 0

Book Description
The idea of mutation has changed considerably from the pre-Mendelian concepts of Darwin's generation to today's up-to-the-minute genomic context of mutation. The historical approach taken by History of Mutation reveals the way science works, incrementally by small steps rather than by dramatic, and rare, paradigm shifts.

Technologies for Detection of DNA Damage and Mutations

Technologies for Detection of DNA Damage and Mutations PDF Author: G.P. Pfeifer
Publisher: Springer Science & Business Media
ISBN: 9780306452376
Category : Medical
Languages : en
Pages : 476

Book Description
''Useful and timely.'' ---Mutagenesis ''Of considerable value.'' ---Journal of Medical Genetics ''Quite readable....a comprehensive overview....perfectly covers the needs of those researchers who have to decide on the best strategy to identify damage or mutations at the molecular level.'' ---Trends in Cell Biology ''The formats of the presentations are uniform and ample and up-to-date references are provided at the end of each chapter...will be welcomed by postgraduate researchers of all ages and should retain its usefulness for a long time.'' ---Endeavour, 21(4), 1997 This important resource thoroughly reviews a wide range of techniques used in mutagenesis research-ranging from established techniques to recently developed methodologies-based on the polymerase chain reaction. DNA damage analysis, DNA repair assays, and mutation detection are a few of the techniques featured. Chapters present detailed experimental protocols benefiting researchers and students in the fields of toxicology, biotechniques, molecular biology, photobiology, medical genetics, and oncology.
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