Human genetics : concepts and applications

500 Pages·2009·46.652 MB·English

by  Ricki Lewis

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ssshe will apply to based on predicted talents in math, science,

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interventions that might lower the risk of, or actually prevent, illnesses for which she has inherited susceptibilities.
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Past editions of this book began with a futuristic scenario of college roommates
selecting genetic tests based on their family backgrounds and medical histories,
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taken in a medical setting. The future is now, the vignette no longer invented.
Today, anyone can order genetic tests that off er information on health, ancestry,
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quirks, talents, and more, with results delivered on the Internet instead of in a
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doctor’s offi ce. All it takes is a DNA sample swished from the mouth and a fee.
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How will knowledge of our DNA sequences aff ect our lives? Will we be able to
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use the information to improve health, or will it give us more to worry about
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0 The age of genetic information is upon us. I hope that this book will help to
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45 guide you in using the knowledge of our genetic selves wisely. e
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9 C NEW! Entirely new case workbook written by Ricki Lewis n
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For those who enjoy learning and teaching from cases, In the Family: A Case
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N Workbook to accompany Human Genetics, Ninth Edition, introduces a multi- A
M generational blending of three core families. Each chapter in the workbook p
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YE connected pedigree. The workbook is a fun, highly innovative way to apply lic
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Contact your McGraw-Hill sales representative to fi nd out more about packaging
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In the Family with Human Genetics, Ninth Edition.
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GENETICS RESOURCES
In 1966, Dr. Victor McKusick, a geneticist at Johns Hopkins University, began to publish an annual compendium
of known inherited diseases in humans, called Mendelian Inheritance in Man. The heavy volume has evolved into a
constantly updated electronic version, searchable at the website for the National Center for Biotechnology Informa-
tion: www.ncbi.nlm.nih.gov/ . The numbered entries are organized as follows:
100,000s = autosomal dominant 400,000s = Y-linked
200,000s = autosomal recessive 500,000s = mitochondrial
300,000s = X-linked
It is helpful to pair MIM information with descriptions on other websites, including experiences written by families
with inherited disease. Below are listed general websites, and on the back inside cover, more specifi c websites.
ORGANIZATIONS National Society of Genetic Counselors
Access Excellence www.nsgc.org
www.accessexcellence.org
FERTILITY
American Society of Gene Therapy
www.fertilityjourney.com
www.asgt.org
www.resolve.org
American Society of Human Genetics
Cryo Eggs International
www.ashg.org
www.cryoeggsintl.com
American College of Medical Genetics
N. W. Andrology & Cryobank
www.acmg.net
www.nwcryobank.com
Bioethics blog
National Embryo Donation Center
http://blog.bioethics.net
www.embryodonation.org/
Department of Energy
genomics.energy.gov FORENSICS
Combined DNA Index System
Genetics & Public Policy Center
www.ncjrs.gov/nij/DNAbro/comb.html
www.DNApolicy.org
Council for Responsible Genetics
Genetics Home Reference
www.councilforresponsiblegenetics.org
http://ghr.nlm.nih.gov
Innocence Project
International Society for Stem Cell Research
www.innocenceproject.org
www.isscr.org
www.dnafi les.org
Mendel Museum of Genetics
www.genetictechnologies.com
www.Mendel-museum.com
RARE DISORDERS
National Cancer Institute
www.cancer.gov Offi ce of Rare Diseases Research
http://rarediseases.info.nih.gov
National Center for Biotechnology Information
www.ncbi.nlm.nih.gov/ www.familyvillage.wisc.edu/library.htm
www.orpha.net
National Coalition for Health Professional
Education in Genetics www.geneticalliance.org/
www.nchpeg.org
National Organization for Rare Disorders
National Library of Medicine Medlineplus Database www.rarediseases.org
www.medlineplus.gov
ISBN: 0-07-352527-8 Front insidecover
Author: Lewis 1 Color
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Title: Human Genetics, 9th Edition Pages: 2
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Genetics
Human
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ninth edition
Genetics
Human
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

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HUMAN GENETICS: CONCEPTS AND APPLICATIONS, NINTH EDITION
Published by McGraw-Hill, a business unit of The McGraw-Hill Companies, Inc., 1221 Avenue of the Americas,
New York, NY 10020. Copyright © 2010 by The McGraw-Hill Companies, Inc. All rights reserved. Previous
editions © 2008, 2007, and 2005. 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 The McGraw-Hill
Companies, Inc., 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.
This book is printed on acid-free paper.
1 2 3 4 5 6 7 8 9 0 DOW/DOW 0 9
ISBN 978–0–07–352527–3
MHID 0–07–352527–8
Publisher: Janice Roerig-Blong
Director of Development: Kristine Tibbetts
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(USE) Cover Image: © Corbis/RF
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Typeface: 10/12 Times Roman LT Std Roman
Printer: R. R. Donnelley Willard, OH
All credits appearing on page or at the end of the book are considered to be an extension of the copyright page.
Library of Congress Cataloging-in-Publication Data
Lewis, Ricki.
Human genetics: concepts and applications/ Ricki Lewis. — 9th ed.
p. cm.
Includes index.
ISBN 978–0–07–352527–3 — ISBN 0–07–352527–8 (hard copy : alk. paper) 1. Human genetics. I. Title.
QH431.L41855 2010
599.93' 5—dc22
2009019044
www.mhhe.com
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About the Author
RRiicki Lewis has built an eclectic career in communicating the
eexxcitement of genetics. She earned her PhD in genetics in
119980 from Indiana University. It was the dawn of the modern
bbiotechnology era, which Ricki chronicled in many magazines
aannd journals. She published one of the first articles on DNA
ffiinngerprinting in D iscover magazine in 1988, and a decade later
oonne of the first articles on human stem cells in The Scientist.
RRiicki has taught a variety of life science courses at Miami
UUniversity, the University at Albany, Empire State College, and
ccoommunity colleges. She has authored or co-authored several
uunniversity-level textbooks and is the author of the essay collection
DDiscovery: Windows on the Life Sciences and the novel S tem Cell
SSyymphony. On the clinical front, Ricki has been a genetic counselor
ffoor a private medical practice since 1984 and has been a hospice
vvoolunteer since 2005. She is a frequent public speaker.
RRiicki presently teaches an online course on “Genethics” for the
AAlden March Bioethics Institute of Albany Medical Center. She
lliivves in upstate New York and sometimes Martha’s Vineyard, with
husband Larry, three daughters, many cats, a tortoise, and a hare.
She can be reached at [email protected] .
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Dedicated to
Benzena Tucker and
Glenn Nichols, who
taught me the value
of optimism.
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Brief Contents
1 4
P P P AA RR T PPP AA RR T
Introduction 1 Population Genetics 265
1 14
C H A P T E R C H A P T E R
Overview of Genetics 1 Constant Allele Frequencies 265
2 15
C H A P T E R C H A P T E R
Cells 18 Changing Allele Frequencies 283
3 16
C H A P T E R C H A P T E R
Meiosis and Development 44 Human Ancestry 307
2 5
P P P AA RR T PPP AA RR T
Transmission Genetics 69 Immunity and Cancer 333
4 17
C H A P T E R C H A P T E R
Single-Gene Inheritance 69 Genetics of Immunity 333
5 18
C H A P T E R C H A P T E R
Beyond Mendel’s Laws 90 Genetics of Cancer 355
6
C H A P T E R 6
Matters of Sex 110
7 PP AA RR T
C H A P T E R
Multifactorial Traits 132 Genetic Technology 378
8
C H A P T E R 19
Genetics of Behavior 152 C H A P T E R
Genetic Technologies:
3 Amplifying, Modifying, and Monitoring DNA 378
20
P P P AA RR T C H A P T E R
Genetic Testing and Treatment 395
DNA and Chromosomes 168 21
C H A P T E R
9 Reproductive Technologies 414
C H A P T E R 22
DNA Structure and Replication 168 C H A P T E R
10 Genomics 430
C H A P T E R
Gene Action: From DNA to Protein 182
11
C H A P T E R
Gene Expression and Epigenetics 202
12
C H A P T E R
Gene Mutation 214
13
C H A P T E R
Chromosomes 240
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Contents
About the Author v
Preface xiii
The Human Touch xvi
Applying Human Genetics xvii
The Lewis Guided Learning System xviii
1
Introduction 1
P A R T
1 2.4 Cell-Cell Interactions 35
C C C HH A P T E R 2.5 Stem Cells 36
Overview of Genetics 1
3
C C C HH A P T E R
1.1 Introducing Genes 2
Meiosis and
1.2 Levels of Genetics 4
1.3 Genes and Their Environment 8 Development 44
1.4 Applications of Genetics 9
3.1 The Reproductive System 45
2
3.2 Meiosis 46
C C C HH A P T E R
3.3 Gamete Maturation 49
Cells 18
3.4 Prenatal Development 53
3.5 Birth Defects 60
2.1 Introducing Cells 19
3.6 Maturation and Aging 62
2.2 Cell Components 19
2.3 Cell Division and Death 30
2
Transmission Genetics 69
P A R T
4 5
C C C HH A P T E R C C C HH A P T E R
Single-Gene Inheritance 69 Beyond Mendel’s Laws 90
4.1 A Tale of Two Families 70 5.1 A New View of Mendelian Genetics 91
4.2 Following the Inheritance of One Gene— 5.2 When Gene Expression Appears to Alter
Segregation 71 Mendelian Ratios 91
4.3 Single-Gene Inheritance in Humans 75 5.3 Mitochondrial Genes 98
4.4 Following the Inheritance of Two Genes— 5.4 Linkage 101
Independent Assortment 79
4.5 Pedigree Analysis 82
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