Chapter 13 science skills human genetics interpreting pedigrees answers

eleventh edition

Human Genetics Concepts and Applications

Ricki Lewis Genetic Counselor CareNet Medical Group Schenectady, New York

Adjunct Assistant Professor of Medical Education Alden March Bioethics Institute Albany Medical College

Writer, Medscape Medical News

Blogger, Public Library of Science

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HUMAN GENETICS: CONCEPTS AND APPLICATIONS, ELEVENTH EDITION

Published by McGraw-Hill Education, 2 Penn Plaza, New York, NY 10121. Copyright © 2015 by McGraw-Hill Education. All rights reserved. Printed in the United States of America. Previous editions © 2012, 2010, and 2008. No part of this publication may be reproduced or distributed in any form or by any means, or stored in a database or retrieval system, without the prior written consent of McGraw-Hill Education, including, but not limited to, in any network or other electronic storage or transmission, or broadcast for distance learning.

Some ancillaries, including electronic and print components, may not be available to customers outside the United States.

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Library of Congress Cataloging-in-Publication Data Lewis, Ricki. Human genetics : concepts and applications/Ricki Lewis, Genetic Counselor, CareNet Medical Group, Sche- nectady, New York, Adjunct Assistant Professor of medical education, Alden March Bioethics Institute, Albany Medical College, writer, Medscape Medical News, blogger, Public Library of Science.—Eleventh edition. pages cm ISBN 978-0-07-352536-5 (alk. paper) 1. Human genetics—Textbooks. I. Title. QH431.L41855 2015 599.93’5—dc23

2014020906

The Internet addresses listed in the text were accurate at the time of publication. The inclusion of a website does not indicate an endorsement by the authors or McGraw-Hill Education, and McGraw-Hill Education does not guarantee the accuracy of the information presented at these sites.

www.mhhe.com

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iii

About the Author Ricki Lewis has built an eclectic career in communicating the excitement of genetics

and genomics. She earned her Ph.D. in genetics in 1980 from Indiana University.

It was the dawn of the modern biotechnology era, which Ricki chronicled in many

magazines and journals. She published one of the first articles on DNA fingerprinting

in Discover magazine in 1988, and a decade later one of the first articles on human

stem cells in The Scientist.

Ricki has taught a variety of life science courses at Miami University, the University

at Albany, Empire State College, and community colleges. She has authored or

co-authored several university-level textbooks and is the author of The Forever Fix:

Gene Therapy and the Boy Who Saved It, as well as an essay collection and a novel .

Ricki has been a genetic counselor for a private medical practice since 1984 and is

a frequent public speaker. Since 2012, Ricki has written hundreds of news stories

for Medscape Medical News, articles for Scientific American and for several genetic

disease organizations, and originated and writes the popular weekly DNA Science

blog at Public Library of Science.

Ricki teaches an online course on “Genethics” for the Alden March Bioethics Institute

of Albany Medical College. She lives in upstate New York and sometimes Martha’s

Vineyard, with husband Larry and several felines. Contact Ricki at rickilewis54@gmail.

com , or join the discussion on DNA Science at http://blogs.plos.org/dnascience/ .

Dedicated to the

families who live with genetic diseases, the

health care providers who help them, and

the researchers who develop new tests

and treatments.

Dedicated to the

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iv

C H A P T E R 12 Gene Mutation 212

C H A P T E R 13 Chromosomes 237

P A R T 4 PP A Population Genetics 263

C H A P T E R 14 Constant Allele Frequencies 263

C H A P T E R 15 Changing Allele Frequencies 279

C H A P T E R 16 Human Ancestry and Evolution 302

P A R T 5 PP A Immunity and

Cancer 326 C H A P T E R 17 Genetics of Immunity 326

C H A P T E R 18 Cancer Genetics and Genomics 351

P A R T 6 P AAP Genetic Technology 374

C H A P T E R 19 Genetic Technologies: Patenting, Modifying, and Monitoring DNA 374

C H A P T E R 20 Genetic Testing and Treatment 389

C H A P T E R 21 Reproductive Technologies 407

C H A P T E R 22 Genomics 425

P A R T 1 PP A Introduction 1

C H A P T E R 1 What Is in a Human Genome? 1

C H A P T E R 2 Cells 15

C H A P T E R 3 Meiosis, Development, and Aging 42

P A R T 2 PP A Transmission

Genetics 68 C H A P T E R 4 Single-Gene Inheritance 68

C H A P T E R 5 Beyond Mendel’s Laws 89

C H A P T E R 6 Matters of Sex 110

C H A P T E R 7 Multifactorial Traits 130

C H A P T E R 8 Genetics of Behavior 148

P A R T 3 PP A DNA and

Chromosomes 163 C H A P T E R 9 DNA Structure and Replication 163

C H A P T E R 10 Gene Action: From DNA to Protein 180

C H A P T E R 11 Gene Expression and Epigenetics 199

Brief Contents

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v

Contents About the Author iii

Preface ix

Applying Human Genetics xiii

The Human Touch xiv

The Lewis Guided Learning System xv

P A R T 1 Introduction 1 C H A P T E R 1 CC HH

What Is in a Human Genome? 1 1.1 Introducing Genes and Genomes 2

1.2 Levels of Genetics and Genomics 3

1.3 Applications of Genetics and Genomics 7

1.4 A Global Perspective on Genomes 9

C H A P T E R 2 CC HHC Cells 15

2.1 Introducing Cells 16

2.2 Cell Components 16

2.3 Cell Division and Death 28

2.4 Stem Cells 33

2.5 The Human Microbiome 37

C H A P T E R 3 CC HH Meiosis, Development,

and Aging 42 3.1 The Reproductive System 43

3.2 Meiosis 44

3.3 Gametes Mature 47

3.4 Prenatal Development 51

3.5 Birth Defects 59

3.6 Maturation and Aging 62

P A R T 2 Transmission Genetics 68 C H A P T E R 4

CC HH

Single-Gene Inheritance 68 4.1 Following the Inheritance of One Gene 69

4.2 Single-Gene Inheritance Is Rare 72

4.3 Following the Inheritance of More Than One Gene 77

4.4 Pedigree Analysis 79

4.5 Family Exome Analysis 83

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vi Contents

C H A P T E R 5 CC HH Beyond Mendel’s

Laws 89 5.1 When Gene Expression Appears to Alter

Mendelian Ratios 90

5.2 Mitochondrial Genes 98

5.3 Linkage 100

C H A P T E R 6 CC HH1 21 2 1 2

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