Genetic Analysis of the X Chromosome


Book Description

The present volume contains the edited transcript of a collo quium sponsored by the Muscular Dystrophy Association and held at Mountain Shadows Inn, Scottsdale, Arizona, December 14-16, 1981. The participants, geneticists, molecular biologists, bio chemists and clinicians, explored in open dialogue ways and means of identifying and characterizing the genetic alterations responsible for X-linked muscular dystrophies, especially the Duchenne type. The clinicians, who urged the use of properly diagnosed and documented case material for study, emphasized the troublesome fact that the primary phenotypic expression of the gene (or genes) involved in the muscular dystrophies is yet to be identified. Discussions centered on the applicability of recent methodol ogical advances in DNA chemistry and molecular biology, cytogenetics and cell biology to mapping the X chromosome. Despite ignorance of the basic disorder in the muscular dystrophies, DNA technologies and chromosome mapping strategies for the discovery of genetic defects and phenotypic expressions were proposed. Beyond its stimulating intellectual exchange, the colloquium yielded important benefits. The participants agreed to share needed cell lines and endonuclease restriction enzymes and to organize interlaboratory communication and collaborative efforts to accelerate progress in the quest for the genetic lesion in Duchenne muscular dystrophy. The discussions were recorded, transcribed, edited and to some extent, rearranged to fit into a sequence of chapters. The editors are grateful to Joy Colarusso Lowe whose unusual skill, patience and persistence made it possible to convert a highly specialized technical discussion into a coherent manuscript.




Genetic Analysis of the X Chromosome


Book Description

The present volume contains the edited transcript of a collo quium sponsored by the Muscular Dystrophy Association and held at Mountain Shadows Inn, Scottsdale, Arizona, December 14-16, 1981. The participants, geneticists, molecular biologists, bio chemists and clinicians, explored in open dialogue ways and means of identifying and characterizing the genetic alterations responsible for X-linked muscular dystrophies, especially the Duchenne type. The clinicians, who urged the use of properly diagnosed and documented case material for study, emphasized the troublesome fact that the primary phenotypic expression of the gene (or genes) involved in the muscular dystrophies is yet to be identified. Discussions centered on the applicability of recent methodol ogical advances in DNA chemistry and molecular biology, cytogenetics and cell biology to mapping the X chromosome. Despite ignorance of the basic disorder in the muscular dystrophies, DNA technologies and chromosome mapping strategies for the discovery of genetic defects and phenotypic expressions were proposed. Beyond its stimulating intellectual exchange, the colloquium yielded important benefits. The participants agreed to share needed cell lines and endonuclease restriction enzymes and to organize interlaboratory communication and collaborative efforts to accelerate progress in the quest for the genetic lesion in Duchenne muscular dystrophy. The discussions were recorded, transcribed, edited and to some extent, rearranged to fit into a sequence of chapters. The editors are grateful to Joy Colarusso Lowe whose unusual skill, patience and persistence made it possible to convert a highly specialized technical discussion into a coherent manuscript.




The X in Sex


Book Description

A tiny scrap of genetic information determines our sex; it also consigns many of us to a life of disease, directs or disrupts the everyday working of our bodies, and forces women to live as genetic chimeras. The culprit--so necessary and yet the source of such upheaval--is the X chromosome, and this is its story. An enlightening and entertaining tour of the cultural and natural history of this intriguing member of the genome, The X in Sex traces the journey toward our current understanding of the nature of X. From its chance discovery in the nineteenth century to the promise and implications of ongoing research, David Bainbridge shows how the X evolved and where it and its counterpart Y are going, how it helps assign developing human babies their sex--and maybe even their sexuality--and how it affects our lives in infinitely complex and subtle ways. X offers cures for disease, challenges our cultural, ethical, and scientific assumptions about maleness and femaleness, and has even reshaped our views of human evolution and human nature. Table of Contents: Prologue 1. Making a Difference Interlude: What Is It, Exactly? 2. The Duke of Kent's Testicles Interlude: How Sexy Is X? 3. The Double Life of Women Epilogue: The Chosen One Further Reading Glossary Index Reviews of this book: The author of Making Babies takes a lively, witty tour of the X chromosome, creator of "a delicious symmetry between men and women"...Entertaining and informative...A fine demonstration of science made accessible. --Kirkus Reviews Reviews of this book: A well-written, well-researched, easy-to-read study that explains what has been learned about the X and Y chromosomes using DNA sequencing and other molecular biology techniques. British biologist Bainbridge...has pulled together historical and current scientific research about how the X and Y chromosomes affect us and what the genes on these chromosomes actually do, like causing sex-linked diseases and color blindness...An excellent example of good science writing...Recommended. --Margaret Henderson, Library Journal Reviews of this book: Bainbridge is an essentialist, interested in understanding what aspects of gender are biologically driven, and why...He has a central question he wants to answer. The question is not so much why men and women are different (a worn topic that's the subject of too many Mars-and-Venus bestsellers) but, far more specific and far more interesting: Why are men and women more different than they need to be? --Liza Mundy, Washington Post Reviews of this book: Bainbridge summarizes our knowledge of the genetic information that determines one's sex by recounting the ancients' speculations about the genesis of gender, following with modern biologists' discovery of the X and Y chromosomes about a century ago, and of the sex-determining gene Sry in the 1990s. In a discussion rich with history, evolution, and philosophy, Bainbridge points out the dramatic effect that gender selection has on people's lives...A fascinating, often humorous analysis of the science of sexuality. --Gilbert Taylor, Booklist Reviews of this book: In The X in Sex, David Bainbridge explains the far-reaching effects of X. Bainbridge...moves with ease between straightforward accounts of biology and historical stories about its effect, like the chapter describing the progression of hemophilia through the royal houses of Europe. Bainbridge discusses cultural history as well as natural history, and his wit enlivens every page. --Christine Kenneally, New York Times Book Review Reviews of this book: There are many literary stars (such as Stephen Jay Gould, Richard Dawkins and Matt Ridley) in the firmament of writers on evolution, and to a man they write with dash and persuasive logic. David Bainbridge is one such and in his latest book he takes the reader through the glories of the X chromosome at a cracking pace. --Miriam Stoppard, Times Higher Education Supplement (UK) Reviews of this book: The truth is that the behaviours of [chromosomes] X and Y are inextricably linked. Bainbridge explores this link in a compelling tale that takes in how the sex chromosomes became sex chromosomes, and the very different consequences of this for women and men. Along the way we encounter the Duke of Kent's testicles, calico cats and non-identical identical twin girls. His story weaves science, history and the history of science (with a little religion for good measure) in a straightforward, anecdotal fashion that will appeal to scientists and non-scientists alike. --Mark T. Ross, New Scientist (UK) Reviews of this book: In his structure/function analysis of the X chromosome, Bainbridge provides a tongue-in-cheek, yet informative, description of one of the two human sex chromosomes. --R. Adler, Choice Reviews of this book: If you have ever been intrigued by some of the puzzles of genetics--why boys tend to get haemophilia or colour blindness while girls are more likely to have an identical twin or to develop rheumatoid arthritis later in life--then The X in Sex is for you. --Chris Tyler-Smith, Times Literary Supplement David Bainbridge takes us on a fascinating tour of X chromosomes and explains what the possession of these intricately folded, infinitessimally narrow, two-inch long strings of genetic codes weighing almost nothing, means for their bearers--that is for each one of us, male and female. History and personal anecdotes are woven together with up-to-date summaries of the science, punctuated with Bainbridge's zany--and very British--humor, so that this information-packed book is pure pleasure to read. --Sarah Blaffer Hrdy author of Mother Nature: A History of Mothers, Infants, and Natural Selection The X in Sex is absolutely fascinating, so intriguing, in fact, that I found myself unwilling to put it down. David Bainbridge surveys an astonishing amount of new information from recent genomic studies of the X chromosome, clearly explaining the findings in a way the average person can easily follow. The science is presented via amusing and highly appropriate metaphors and clever turns of phrase, all of which serve to brighten the prose and present the reader with catchy ways to think about complex ideas. This is an informative, authoritative, and thoroughly enjoyable read: one of the best books I have read in recent years. --Jane Lancaster, University of New Mexico This is wonderful stuff--beautifully written, clear, jargon-free, with anecdotes sure to hold the attention. --other hupauthorTim Birkhead, author of Promiscuity: An Evolutionary History of Sperm Competition




Primer of Genetic Analysis


Book Description

A student-tested study aid, this primer provides guided instruction to the analysis and interpretation of genetic principles and problem solving.




Statistical Methods for the Analysis of Autosomal and X Chromosome Genetic Data in Samples with Unknown Structure


Book Description

Genome-wide association studies (GWAS) and sequencing association studies are routinely conducted for the mapping of genes to complex traits. Genetic variants on the X chromosome could potentially play an important role in some complex traits, however, statistical methods for association studies have primarily been developed for variants on the autosomal chromosomes with significantly less attention given to the X chromosome. Existing association methods for variants on the autosomal chromosomes will typically not be valid for the analysis of X-linked variants due to the X chromosome having a different correlation structure than the autosomes as well as copy number differences for males and females on the X. This dissertation develops and applies new statistical methodology for genetic analysis of variants on the X chromosome. In particular, we focus on methods that are computationally feasible for large-scale genomic data for detecting genetic associations with common and rare variants from GWAS and sequencing studies. Furthermore, the proposed methods allow for valid genetic analysis in the presence of complex sample structures, such as population structure and cryptic relatedness among sampled individuals. Another aspect of this dissertation is the development of statistical methods for inference of heterogeneity in ancestry across the genome (including the X chromosome) in recently admixed populations, such as African Americans and Hispanics, who have experienced admixing within the past few hundred years from two or more continental groups that were previously isolated.




Genetic Analysis


Book Description

There is a paradox lying at the heart of the study of heredity. To understand the ways in which features are passed on down from one generation to the next, we have to dig deeper and deeper into the ultimate nature of things - from organisms, to genes, to molecules. And yet as we do this, increasingly we find we are out of focus with our subjects. What has any of this to do with the living, breathing organisms with which we started? Organisms are living. Molecules are not. How do we relate one to the other? In Genetic Analysis, one of the most important empirical scientists in the field in the twentieth century attempts, through a study of history and drawing on his own vast experience as a practitioner, to face this paradox head-on. His book offers a deep and innovative understanding of our ways of thinking about heredity.




Advanced Genetic Analysis


Book Description

Advanced Genetic Analysis brings a state-of-the-art,exciting new approach to genetic analysis. Focusing on theunderlying principles of modern genetic analysis, this bookprovides the 'how' and 'why' of the essential analytical toolsneeded. The author's vibrant, accessible style provides an easyguide to difficult genetic concepts, from mutation and genefunction to gene mapping and chromosome segregation. Throughout, abalanced range of model organisms and timely examples are used toillustrate the theoretical basics. Basic principles - Focuses students attention on the 'how' and'why' of the essential analytical tools. Vibrant, accessible style provides an easy guide throughdifficult genetic concepts and techniques. Text boxes highlight key questions and timely examples. Boxes of key information in each chapter, chapter summaries andextensive references - prompt the student to synthesise andreinforce the chapter material. Special reference section addressing a range of model organismsto help provide a particularly relevant context for students'research interests.




Handbook of DNA Profiling


Book Description

This reference book comprehensively reviews the significance of DNA technology in forensic science. After presenting the theory, basic principles, tools and techniques that are used in forensic DNA typing, it summarizes various techniques, including autosomal STR, Y-STR, X-STR, mitochondrial DNA and NGS, used in solving both criminal as and civil cases, such as paternity disputes, identification of mutilated remains, and culprit identification in sexual assault and murder cases. It also provides an overview of DNA-based genetic diagnostics for various diseases, and discusses the role of DNA typing in drug reactions, as well as the application of non-human DNA profiling of animals and plants in forensic science investigations. Lastly, the book examines the role of internal quality control in maintaining the high quality of DNA profiling.







Modern Genetic Analysis


Book Description

Modern Genetic Analysis, Second Edition, the second introductory genetics textbook W.H. Freeman has published by the Griffiths author team, implements an innovative approach to teaching genetics. Rather than presenting material in historical order, Modern Genetic Analysis, Second Edition integrates molecular genetics with classical genetics. The integrated approach provides students with a concrete foundation in molecules, while simultaneously building an understanding of the more abstract elements of transmission genetics. Modern Genetic Analysis, Second Editionalso incorporates new pedagogy, improved chapter organization, enhanced art, and an appealing overall design.