JOHN B. JENKINS Human Genetics HUMAN GENETICS SECOND EDITION John B. Jenkins Swarthmore College 1817 HARPER & ROW, PUBLISHERS, New York Grand Rapids, Philadelphia, St Louis, San Francisco, London, Singapore, Sydney, Tokyo Project Editor: H. Dean Ragland Art Direction: Lucy Krikorian Cover Coordinator: Mary Archondes Cover Design: Wanda Lubelska Design Photo Research: Lynn Mooney Mira Schachne Production: Kewal Sharma HUMAN GENETICS, Second Edition Copyright © 1990 by Harper & Row, Publishers, Inc. All rights reserved. Printed in the United States of America. No part of this book may be used or reproduced in any manner whatsoever without written permission, except in the case of brief quotations embodied in critical articles and reviews. Lor information address Harper & Row, Publishers, Inc., 10 East 53rd Street New York, NY 10022-5299. Library of Congress Cataloging-in-Publication Data Jenkins, John B. Human genetics / John B. Jenkins.—2nd ed. p. cm. Includes bibliographical references. ISBN 0-06-043285-3 1. Human genetics. I. Title. QH431.J34 1990 573.2' 1—dc20 89-38680 CIP 89 90 91 92 9 8 7 6 5 4 3 2 1 Dedicated to Dotti, John, Soraya, and the loving memory of Mom and Dad Brief Contents Detailed Contents ix Preface xiii 1. Introduction to Human Genetics 1 2. Chromosomes: The Physical Basis of Inheritance 14 3. Mendelism: Inheritance as Probability 52 4. Autosomal and Sex-Linked Inheritance 89 5. Gene Mapping 126 6. Chromosome Aberrations 162 7. The Molecular Basis of Inheritance 208 8. Manipulation of the Genetic Material 240 9. The Regulation of Gene Expression 263 10. Gene Mutations 295 11. Human Biochemical Genetics 326 12. Genetics of the Immune System 358 13. Complex Patterns of Inheritance 392 14. The Genetics of Human Behavior 426 15. Populations and Evolution 453 Appendixes 495 A Glossary 497 B Answers 509 Photograph and Illustration Credits 523 Index 525