Author: Orlando J. Miller
Publisher: Springer Science & Business Media
ISBN: 1461301394
Category : Medical
Languages : en
Pages : 501
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Book Description
The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.
Author: Eeva Therman
Publisher: Springer Science & Business Media
ISBN: 1468401076
Category : Science
Languages : en
Pages : 247
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Book Description
This book provides an introduction to human cytogenetics. It is also suitable for use as a text in a general cytogenetics course, since the basic features of chromosome structure and behavior are shared by all eukar yotes. Because my own background includes plant and animal cytoge netics, many of the examples are taken from organisms other than man. Since the book is written from a cytogeneticist's point of view, human syndromes are described only as illustrations of the effects of abnormal chromosome constitutions on the phenotype. The selection of the phe nomena to be discussed and of the photographs to illustrate them is, in many cases, subjective and arbitrary and is naturally influenced by my interests and the work done in our laboratory. The approach to citations is the exact opposite of that usually used in scientific papers. Whenever possible, the latest and/or most comprehen sive review has been cited, instead of the original publication. Thus the reader is encouraged to delve deeper into any question of interest to him or her. I am greatly indebted to many colleagues for suggestions and criticism. However, my special thanks are due to Dr. JAMES F. CROW, Dr. TRAUTE M. SCHROEDER, and Dr. CARTER DENNISTON for their courage in reading the entire manuscript. I wish to express my gratitude also to the cytogeneticists and editors who have generously permitted the use of published and unpublished photographs.
Author: H.N. Seuanez
Publisher: Springer Science & Business Media
ISBN: 3642672604
Category : Medical
Languages : en
Pages : 198
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Book Description
The question of how man has emerged must be as old as human thought itself. However, it was not until last century that, amidst a storm of opposition and highly emotional criticism, man was first conceived as a product of evolution rather than creation. Moreover, it is not yet thirty years since the chemical composition and molecular structure of the hereditary material was fully understood or the chromosome number of man became known. It should not be surprising then, to find how little, at present, we understand how our genes and chromosomes operate, and how they have evolved during phylogeny. In this work I have discussed how our own chromosomes have been transmitted and altered as far back as we may trace their phylogeny into the past. To make the work more complete, the composition and evolution of our own genome had also to be consiered in order to understand some of the recent findings at the chromosome level. These have resulted from using methods for localizing repetitive and single copy DNA sequences in chromosomes. Moreover, the development of biochemical methods of studying evolution at the macromolecular level has not only led to a more complete understanding of the evolutionary mechanisms, but has enabled us to make comparisons with evolutionary change at the chromosome level. In addition, a simple reference to the fossil record was necessary, because impressive discoveries in recent years have supplied valuable data on man's evolution.
Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309132975
Category : Medical
Languages : en
Pages : 287
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Book Description
It's obvious why only men develop prostate cancer and why only women get ovarian cancer. But it is not obvious why women are more likely to recover language ability after a stroke than men or why women are more apt to develop autoimmune diseases such as lupus. Sex differences in health throughout the lifespan have been documented. Exploring the Biological Contributions to Human Health begins to snap the pieces of the puzzle into place so that this knowledge can be used to improve health for both sexes. From behavior and cognition to metabolism and response to chemicals and infectious organisms, this book explores the health impact of sex (being male or female, according to reproductive organs and chromosomes) and gender (one's sense of self as male or female in society). Exploring the Biological Contributions to Human Health discusses basic biochemical differences in the cells of males and females and health variability between the sexes from conception throughout life. The book identifies key research needs and opportunities and addresses barriers to research. Exploring the Biological Contributions to Human Health will be important to health policy makers, basic, applied, and clinical researchers, educators, providers, and journalists-while being very accessible to interested lay readers.
Author: Claudia Behrend
Publisher: Springer
ISBN: 3319540998
Category : Medical
Languages : en
Pages : 210
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Book Description
This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases, for example direct preparation of cells and mitoses, short or long-time cell culture, fluorescence in situ hybridization (FISH), analysis of interphases, microarray or DNA sequencing. Generally it has to be taken into account, that the development of new and improved investigation methods is forthcoming. Thus, by improvement of diagnostic possibilities new fields of investigation arise, and special groups of patients with cytogenetic analyses can be re-analysed under new research questions.
Author: National Research Council
Publisher: National Academies Press
ISBN: 0309038405
Category : Science
Languages : en
Pages : 128
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Book Description
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Author: Bruce Alberts
Publisher:
ISBN: 9780815332183
Category : Cytology
Languages : en
Pages : 0
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Book Description
Author: Thomas Liehr
Publisher: Springer Science & Business Media
ISBN: 3642207669
Category : Medical
Languages : en
Pages : 233
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Book Description
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.
Author: Jorge Yunis
Publisher: Elsevier
ISBN: 0323154832
Category : Medical
Languages : en
Pages : 349
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Book Description
Molecular Structure of Human Chromosomes is an authoritative guide to genetics, focusing on human genome. This reference compiles contributions covering available knowledge on human genome structure and organization, which the previous researches fail to encompass. This text provides a comprehensive discussion of cytogenetic techniques, emphasizing their application to human genome studies and examinations. The book is divided into nine chapters. It explains the molecular organization and function of the human genome and the DNA sequences in man. It also discusses the localization of human gene by in situ hybridization and the approaches to gene mapping. The book describes the structure of the chromosomes and the trends in chromosome techniques; banding and polymorphism; and repetitive DNA and primate evolution. Various practitioners in genetics and biology will find this book a good reference. Students and novices in these fields will also find this book an excellent guide.
Author: H.E. Wyandt
Publisher: Springer Science & Business Media
ISBN: 9401704333
Category : Medical
Languages : en
Pages : 279
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Book Description
Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a “normal” variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).
