Defines the origin of ring extra structurally abnormal chromosomes (ESACs), relates the genetic content of different ring ESACs derived from the same chromosome with the patient's pheuotype, generates probes for diagnostic use and refines the critical region of Wolf-Hirschhorn syndrome.

Chromosome Microdissection and Cloning: A Practical Guide is a straightforward guide to chromosome microdissection and cloning. It presents an overview of the procedures and briefly reviews a few areas of research in which these techniques are applied. Topics range from preparation of chromosomes for microdissection to molecular cloning of microdissected chromosomal DNA. Methods of chromosome microdissection, including video microscope method and oil chamber method, are described. Comprised of five chapters, this book begins with an overview of the structure and organization of chromosomes, followed by a description of methods for preparing and preserving chromosomal DNA in a manner that is useful for cloning and direct analysis. Microdissection of metaphase chromosomes and isolation of fragments can be accomplished in one of the three ways described in the next chapter: by microdissection using an upright microscope and glass capillaries in an oil chamber; by laser microbeam; and with the use of an inverted microscope equipped with a video camera and high magnification-high resolution lenses. A step-by-step guide to these techniques and solutions for common problems are given following each method. Protocols for cloning and identifying genetic sequences from defined chromosome regions, particularly using the polymerase chain reaction, are also discussed. The final chapter focuses on applications of chromosome microdissection, such as cloning of disease-specific genes and generating "sequence tagged sites" to be used in large DNA sequencing projects. This monograph will be particularly helpful to investigators setting up microdissection systems de novo.

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.

Several developmental and historical threads are woven and displayed in these two volumes of Bacterial Artificial Chromosomes, the first on Library Construction, Physical Mapping, and Sequencing, and the second on Fu- tional Studies. The use of large-insert clone libraries is the unifying feature, with many diverse contributions. The editors have had quite distinct roles. Shaying Zhao has managed several BAC end-sequencing projects. Marvin Stodolsky during 1970–1980 contributed to the elucidation of the natural b- teriophage/prophage P1 vector system. Later, he became a member of the Genome Task Group of the Department of Energy (DOE), through which s- port flowed for most clone library resources of the Human Genome Program (HGP). Some important historical contributions are not represented in this volume. This preface in part serves to mention these contributions and also briefly surveys historical developments. Leon Rosner (deceased) contributed substantially in developing a PAC library for drosophila that utilized a PI virion-based encapsidation and tra- fection process. This library served prominently in the Drosophila Genome Project collaboration. PACs proved easy to purify so that they substantially replaced the YACs used earlier. Much of the early automation for massive clone picking and processing was developed at the collaborating Lawrence Berkeley National Laboratory. However, the P1 virion encapsidation system itself was too fastidious, and P1 virion-based methods did not gain popularity in other genome projects.

The combined power of genetic analysis and recombinant DNA technology to analyse entire genomes has moved biomedical research into a new and revolutionary phase. The complete sequencing and mapping of the human genome, as well as the genomes of other model organisms, will be the basis for our future understanding of human disease, and will allow us to answer fundamental questions about development and evolution. T The new ICRF Handbook of Genome Analysis is the essential guide to the enormous range of techniques available to the researcher for both the genetic and physical mapping of the genome, as well as the sequencing and analysis of DNA. It is both a protocol manual and a comprehensive information resource. Written by international experts, each chapter presents a state-of-the-art review of a methodology. Methods are fully described and evaluated; their advantages and disadvantages discussed; and their suitability for different investigations considered. Step-by-step protocols, including computer analyses, are given for 123 essential experimental procedures. 'Troubleshooting' sections discuss possible reasons for failure and offer remedies. The primary focus is on human genetics and the benefits of an understanding of the genome for the diagnosis and treatment of human disease. The book also considers the current state of progress in the analysis of genomes of many model organisms, including plants. A major part of the work provides detail on Internet resources as well as basic data on human and other genomes, including mapped disease genes and mouse knockouts. Covers not only the human genome in relation to cancers and other human diseases, but also the genomes of all important model organisms Contains 123 easy-to-follow protocols for essential experimental procedures Reviews a vast range of other information resources, including journals and the Internet * provides an invaluable listing of suppliers of laboratory materials Has been written by international experts from their own practical experience Is mandated by the Imperial Cancer Research Fund - a leader in research in this field Has a sturdy spiral binding within a hardback case for ease of use in the lab