Advances in Human Genetics PDF
Preview Advances in Human Genetics
3 ADVANCES IN HUMAN GENETICS CONTRIBUTORS TO THIS VOLUME: Arthur D. Bloom Department of Human Genetics University of Michigan Medical School Ann Arbor, Michigan David E. Comings Department of Medical Genetics City of Hope National Medical Center Duarte, California Henry L. Nadler Department of Pediatrics Northwestern University Chicago, Illinois John S. O'Brien Department of Neurosciences School of Medicine University of California at San Diego Frank H. Ruddle Department of Biology Kline Biology Tower Yale University New Haven, Connecticut 3 ADVANCES IN HUMAN GENETICS Edited by Harry Harris Galton Professor of Human Genetics University College London London, England and Kurt Hirschhorn Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics Mount Sinai School of Medicine of The City University of New York 9? SPRINGER SCIENCE+BUSINESS MEDIA, LLC 1972 Library of Congress Catalog Card Number 77-84583 ISBN 978-1-4757-4431-6 ISBN 978-1-4757-4429-3 (eBook) DOI 10.1007/978-1-4757-4429-3 ® 1972 Springer Science+Business Media New York Originally published by Plenum Press, New York in 1972 Softcover reprint of the hardcover 1s t edition 1972 Ali rights reserved No part of this publication may be reproduced in any form without written permission from the publisher ARTICLES PLANNED FOR FUTURE VOLUMES: The Adreno-Genital Syndromes • Maria New Screening for Inborn Errors • Harvey Levy Genetics of Deafness • Walter Nance Genetics of Populations • Luca Cavalli-Sforza Pharmacogenetics • Bert LaDu Genetics and Biochemistry of HGPRT • Jay Seegmiller Inherited Bone Diseases • David Rimoin Human Meiosis • Jan Lindsten and Maj Hulten Population Genetics of French Canadians • Claude Laberge New Techniques for Analyzing the Human Karyotype • Jerome Lejeune and Bernard Dutrillaux Preface to Volume 1 During the last few years the science of human genetics has been expanding almost explosively. Original papers dealing with different aspects of the subject are appearing at an increasingly rapid rate in a very wide range of journals, and it becomes more and more difficult for the geneticist and virtually impossible for the nongeneticist to keep track of the develop ments. Furthermore, new observations and discoveries relevant to an overall understanding of the subject result from investigations using very diverse techniques and methodologies and originating in a variety of different disciplines. Thus, investigations in such various fields as enzymology, immunology, protein chemistry, cytology, pediatrics, neurology, internal medicine, anthropology, and mathematical and statistical genetics, to name but a few, have each contributed results and ideas of general significance to the study of human genetics. Not surprisingly it is often difficult for workers in one branch of the subject to assess and assimilate findings made in another. This can be a serious limiting factor on the rate of progress. Thus, there appears to be a real need for critical review articles which summarize the positions reached in different areas, and it is hoped that "Advances in Human Genetics" will help to meet this requirement. Each of the contributors has been asked to write an account of the position that has been reached in the investigations of a specific topic in one of the branches of human genetics. The reviews are intended to be critical and to deal with the topic in depth from the writer's own point of view. It is hoped that the articles will provide workers in other branches of the subject, and in related disciplines, with a detailed account of the results so far ob tained in the particular area, and help them to assess the relevance of these discoveries to aspects of their own work, as well as to the science as a whole. The reviews are also intended to give the reader some idea of the nature of the technical and methodological problems involved, and to indicate new directions stemming from recent advances. vii viii Preface to Volume 1 The contributors have not been restricted in the arrangement or organization of their material or in the manner of its presentation, so that the reader should be able to appreciate something of the individuality of approach which goes to make up the subject of human genetics, and which, indeed, gives it much of its fascination. JANUARY I, 1970 HARRY HARRIS The Galton Laboratory University College London KURT HIRSCHHORN Division of Medical Genetics Department of Pediatrics Mount Sinai School of Medicine Contents Chapter I Prenatal Detection of Genetic Disorders Henry L. Nadler Introduction . . Amniotic Fluid Electrolytes 2 Proteins and Protein Derivatives 2 Hormones .... . 3 Enzymes .... . 3 Other Components . 5 Amniotic Fluid Cells . . 5 Cultivated Amniotic Fluid Cells . 9 Cytogenetic Studies 10 Biochemical Studies . 13 Amniocentesis . . . . . . 17 Visualization of the Fetus 21 Maternal Blood and Urine 23 Indications 24 Prospectives and Suggestions for Intrauterine Diagnosis 27 Acknowledgments 29 Bibliography 29 Chapter 2 Ganglioside Storage Diseases 39 John S. O'Brien Introduction . 39 Phenotypic Descriptions . . . . . . . . . . . . . 42 Tay-Sachs Disease (GM Gangliosidosis Type I) . 42 2 Sandhoff's Disease (GM Gangliosidosis Type II) 44 2 ix X Contents Juvenile GM Gangliosidosis (GM Gangliosidosis Type III) 47 2 2 Generalized Gangliosidosis (GM Gangliosidosis Type I) . 48 1 Juvenile GM Gangliosidosis (GM Gangliosidosis Type II) 53 1 1 Genetics .......... . 59 Chemistry of Storage Substances: Gangliosides 62 Tay-Sachs Disease . . . . . 62 Sandhoff's Disease . . . . . 62 Juvenile GM Gangliosidosis 65 2 Generalized Gangliosidosis . 65 Juvenile GM Gangliosidosis 66 1 Chemistry of Storage Substances: M ucopolysaccharides 66 Ganglioside Storage Diseases: Enzymic Defects . . . 67 Tay-Sachs Disease . . . . . . . . . . . . . . 67 Detection of Homozygotes and Heterozygotes by Serum Hexosaminidase Assay . . . . . . . . 70 Prenatal Diagnosis of Tay-Sachs Disease . 74 Sandhoff's Disease . . . . . 82 Juvenile GM Gangliosidosis 85 2 Generalized Gangliosidosis . 86 Juvenile GM Gangliosidosis 91 1 Therapy and Prevention 93 Conclusions . 93 Bibliography . 95 Chapter 3 Induced Chromosomal Aberrations in Man 99 Arthur D. Bloom Introduction . . . . . . . . . 99 Types of Structural Aberrations 100 General Considerations 100 The Cell Cycle 100 Chromosome-Type Aberrations 104 Chromatid-Type Aberrations . 106 Abnormalities of Chromosome Number 109 Methods of Studying Somatic Tissues . . . 113 The Peripheral Blood Culture Technique . 114 Approach to Microscopy: Cells and Subjects . 117 "Spontaneous" Aberrations . 118 Human Population Cytogenetics . . . . . . . . . 119
The list of books you might like
