Genomic Imprinting And Uniparental Disomy In Medicine
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Author | : Eric Engel |
Publisher | : John Wiley & Sons |
Total Pages | : 303 |
Release | : 2004-03-24 |
Genre | : Medical |
ISBN | : 0471459135 |
Eric Engel and Stylianos Antonarakis have written the most authoritative and vital reference on molecular and clinical aspects of uniparental disomy (UPD) and genomic imprinting to date. Genomic Imprinting and Uniparental Disomy in Medicine features comprehensive overviews of a multitude of genetic disorders linked to UPD, with a strong emphasis on clinical consequences. This book will provide readers with the tools necessary to identify and treat diseases associated with nontraditional chromosomal inheritance. Genomic Imprinting and Uniparental Disomy in Medicine features handy tables summarizing clinical phenotypes and chromosomal involvement in UPD, as well as clear illustrations on imprinting mechanisms and diagnostic testing. This authoritative, completely up-to-date practical reference will be useful for any clinical geneticist, genetic counselor, physician, or researcher encountering patients with such disorders or studying complex disease mechanisms.
Author | : Thomas Liehr |
Publisher | : Springer |
Total Pages | : 201 |
Release | : 2014-06-26 |
Genre | : Medical |
ISBN | : 3642552889 |
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.
Author | : R.J. MKinlay Gardner |
Publisher | : OUP USA |
Total Pages | : 650 |
Release | : 2012 |
Genre | : Medical |
ISBN | : 0195375335 |
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Author | : Theodore Friedmann |
Publisher | : Academic Press |
Total Pages | : 203 |
Release | : 2014-11-27 |
Genre | : Science |
ISBN | : 1483295575 |
Continuing to keep pace with progress in human molecular genetics, Volume 4 of Molecular Genetic Medicine reviews five new areas of critical importance. Chapter 1 reviews the molecular mechanisms that have beenunraveled in the pathogenesis of eye diseases. The second chapter explains the remarkable new principle if genomic imprinting, or epigenetic modification imposed by parental history. Chapter 3 describes the etiology of amyotrophic lateral sclerosis, or Lou Gehrig's Disease, as effected by superdioxide dismutase function and neuron degeneration. The fourth chapter covers the normal and aberrant functions of peroxisomes, now implicated in many diseases, most notably adrenoleukodystrophy, publicized widelyby the"cure"called Lorenzo's oil. The final chapter summarizes recombination techniques that permit functional new genetic material to be introduced into, and subsequently transmitted through, the germ line of mammalian cells. These amazing methods arehaving profound impacts on medicine and on concepts of the study of normal human development and disease. Presents technical and historical overviews of molecular biology applied to disease detection, diagnosis, and treatment Chronicles the continuing explosion of knowledge in molecular genetic medicine giving current approaches to understanding human illness Documents the revolution in human and molecular genetics leading to a new field of medicine
Author | : Andrew Ward |
Publisher | : Springer Science & Business Media |
Total Pages | : 381 |
Release | : 2008-02-02 |
Genre | : Medical |
ISBN | : 1592592112 |
Genomic imprinting is the process by which gene activity is regulated according to parent of origin. Usually, this means that either the maternally inherited or the paternally inherited allele of a gene is expressed while the opposite allele is repressed. The phenomenon is largely restricted to mammals and flowering plants and was first recognized at the level of whole genomes. Nuclear transplantation experiments carried out in mice in the late 1970s established the non-equivalence of the maternal and paternal genomes in mammals, and a similar conclusion was drawn from studies of interploidy crosses of flowering plants that extend back to at least the 1930s. Further mouse genetic studies, involving animals carrying balanced translocations (reviewed in Chapter 3), indicated that imprinted genes were likely to be widely scattered and would form a minority within the mammalian genome. The first imprinted genes were identified in the early 1990s; over forty are now known in mammals and the list continues steadily to expand.
Author | : Jon F. Wilkins |
Publisher | : Springer Science & Business Media |
Total Pages | : 141 |
Release | : 2009-10-01 |
Genre | : Medical |
ISBN | : 0387775765 |
The goal of this book is neither to provide a basic introduction to imprinting, nor to provide a comprehensive survey of the current state of the field. Rather, the book covers more recent advances, drawing attention to the emerging subtleties and complexities associated with imprinted genes. Genomic imprinting refers to a recently discovered phenomenon in which the expression pattern of an allele depends on whether that allele was inherited from the mother or the father.
Author | : R.J. McKinlay Gardner |
Publisher | : Oxford University Press |
Total Pages | : 729 |
Release | : 2018-02-06 |
Genre | : Medical |
ISBN | : 019932901X |
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Author | : David Haig |
Publisher | : Rutgers University Press |
Total Pages | : 244 |
Release | : 2002 |
Genre | : Science |
ISBN | : 9780813530277 |
Genomic imprinting allows scientists to trace genes to the parent of origin. This volume presents a collection of 13 papers by David Haig (organisimic and evolutionary biology, Harvard U.) on genomic imprinting. He argues that our paternally and maternally active genes do not work in cooperation with each other and in fact are in competition. Each paper is followed by commentary by the author, providing background information and discussing developments since its publication. Annotation copyrighted by Book News Inc., Portland, OR.
Author | : Anna Maria Giuffrida Stella |
Publisher | : |
Total Pages | : 504 |
Release | : 1990-07-19 |
Genre | : Medical |
ISBN | : |
Offers an up-to-date account of the latest research findings concerned with the regulatory mechanisms of gene expression in neuronal and glial cells under different conditions. The book explores the cellular and neurobiological aspects of important phenomena of the nervous system and its role in health, disease and injury. Contributions from prominent scientists in the field address a variety of specific topics concerned with gene expression in the nervous system--from growth, hormonal and trophic factors to neural tissue reactions in injury or aging.
Author | : Thomas Liehr |
Publisher | : Springer Science & Business Media |
Total Pages | : 233 |
Release | : 2011-11-03 |
Genre | : Medical |
ISBN | : 3642207669 |
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.