Genetics vol 2, e i macmillan science library

genetics EDITORIAL BOARD Editor in Chief Richard Robinson rrobinson@nasw.org Tucson, Arizona Associate Editors Ralph R Meyer, University Distinguished Teaching Professor and Professor of Biological Sciences, University of Cincinnati David A Micklos, Executive Director, DNA Learning Center, Cold Spring Harbor Laboratories Margaret A Pericak-Vance, James B Duke Professor of Medicine, Director, Center for Human Genetics, Duke University Medical Center Students from the following school participated as consultants: Medford Area Middle School, Medford, Wisconsin Jeanine Staab, Teacher EDITORIAL AND PRODUCTION STAFF Linda Hubbard, Editorial Director Kate Millson, Editor Ray Abruzzi, Mark Mikula, Nicole Watkins, Contributing Editors Matthew Nowinski, Angela Pilchak, Editorial Interns Marc Borbély, Nancy E Gratton, Copyeditors Marc Borbély, Amy L Unterburger, Proofreaders Ellen Davenport, Indexer Michelle DiMercurio, Senior Art Director Rita Wimberley, Senior Buyer Shalice Shah-Caldwell, Permissions Associate Robyn V Young, Project Manager, Imaging and Multimedia Content Lezlie Light, Coordinator, Imaging and Multimedia Content Robert Duncan, Senior Imaging Specialist, Imaging and Multimedia Content Deanna Raso, Photo Researcher Macmillan Reference USA Frank Menchaca, Vice President and Publisher Hélène G Potter, Director, New Product Development ii genetics VOLUME E–I Richard Robinson Genetics Richard Robinson © 2003 by Macmillan Reference USA Macmillan Reference USA is an imprint of The Gale Group, Inc., a division of Thomson Learning, Inc photocopying, recording, taping, Web distribution, or information storage retrieval systems—without the written permission of the publisher Macmillan Reference USA™ and Thomson Learning™ are trademarks used herein under license For permission to use material from this product, submit your request via Web at http://www.gale-edit.com/permissions, or you may download our Permissions Request form and submit your request by fax or mail to: For more information, contact Macmillan Reference USA 300 Park Avenue South, 9th Floor New York, NY 10010 Or you can visit our Internet site at http://www.gale.com ALL RIGHTS RESERVED No part of this work covered by the copyright hereon may be reproduced or used in any form or by any means—graphic, electronic, or mechanical, including Permissions Department The Gale Group, Inc 27500 Drake Rd Farmington Hills, MI 48331-3535 Permissions Hotline: 248-699-8006 or 800-877-4253 ext 8006 Fax: 248-699-8074 or 800-762-4058 this publication, The Gale Group, Inc does not guarantee the accuracy of the data contained herein The Gale Group, Inc accepts no payment for listing; and inclusion in the publication of any organization, agency, institution, publication, service, or individual does not imply endorsement of the editors or publisher Errors brought to the attention of the publisher and verified to the satisfaction of the publisher will be corrected in future editions Volume ISBN Numbers 0-02-865607-5 (Volume 0-02-865608-3 (Volume 0-02-865609-1 (Volume 0-02-865610-5 (Volume While every effort has been made to ensure the reliability of the information presented in LIBRARY OF CONGRESS CATALOGING- IN-PUBLICATION DATA Genetics / Richard Robinson, editor in chief p ; cm Includes bibliographical references and index ISBN 0-02-865606-7 (set : hd.) Genetics—Encyclopedias [DNLM: Genetics—Encyclopedias—English Genetic Diseases, Inborn—Encyclopedias—English Genetic Techniques—Encyclopedias—English Molecular Biology—Encyclopedias—English QH 427 G328 2003] I Robinson, Richard, 1956– QH427 G46 2003 576’.03—dc21 2002003560 Printed in Canada 10 1) 2) 3) 4) For Your Reference The following section provides a group of diagrams and illustrations applicable to many entries in this encyclopedia The molecular structures of DNA and RNA are provided in detail in several different formats, to help the student understand the structures and visualize how these molecules combine and interact The full set of human chromosomes are presented diagrammatically, each of which is shown with a representative few of the hundreds or thousands of genes it carries NUCLEOTIDE STRUCTURE Sample naming conventions for each structure: Nitrogenous base C5' Phosphate Adenine 4' Sugar 1' 3' 2' Base Adenosine Nucleoside Adenosine monophosphate Nucleotide DNA VS RNA C5' P base O C5' P 1' 4' H H 2' H H H HO O H C H N C H OH ribose O C 2' H deoxyribose H 3C H 3' H HO 1' 4' H 3' base O C N H Thymine N C O H H C C C N O H Uracil v For Your Reference NUCLEOTIDE STRUCTURES CANONICAL B-DNA DOUBLE HELIX Ribbon model vi Ball-and-stick model Space-filling model For Your Reference DNA NUCLEOTIDES PAIR UP ACROSS THE DOUBLE HELIX; THE TWO STRANDS RUN ANTI-PARALLEL vii For Your Reference SELECTED LANDMARKS OF THE HUMAN GENOME Cataracts Tremor, familial essential Opioid receptor Ovarian cancer Prostate cancer Serotonin receptors Deafness, autosomal recessive Deafness, autosomal dominant Moyamoya disease Muscular dystrophy, limb-girdle, type IC Obesity, severe Micropenis Holoprosencephaly Lung cancer, small-cell Retinitis pigmentosa Lissencephaly Colon cancer Diabetes mellitus, non-insulindependent BRCA1 associated protein (breast cancer) Spinocerebellar ataxia Limb-girdle muscular dystrophy, autosomal dominant Liver cancer oncogene Epilepsy Cardiomyopathy, familial hypertrophic Emery-Dreifuss muscular dystrophy Long QT syndrome Myotonic dystrophy Thyrotropin-releasing hormone deficiency Fish-odor syndrome Dopamine receptor Metastasis suppressor Ataxia telangiectasia Cardiomyopathy, dilated Programmed cell death Alzheimer's disease Ovarian cancer 263 million bases 255 million bases 214 million bases Hyperlipoproteinemia Deafness, autosomal dominant Myeloid leukemia Cerebral cavernous malformations Hand-foot-uterus syndrome Polydactyly Albinism, brown and rufous Alopecia universalis Cyclin-dependent kinase inhibitor Colorectal cancer Galactosemia Friedreich ataxia Retinitis pigmentosa ACTH deficiency Choreoacanthocytosis Colon cancer Achromatopsia Pseudohermaphroditism, male, with gynecomastia Brachydactyly, type B1 Aldosteronism Muscular dystrophy, Fukuyama congenital Esophageal cancer Osteogenesis imperfecta Cystic fibrosis Burkitt lymphoma Colorblindness, blue cone pigment Dystonia, torsion, autosomal dominant Tuberous sclerosis Nail-patella syndrome Taste receptors viii 171 million bases 155 million bases 145 million bases For Your Reference Achondroplasia Huntington disease Phenylketonuria Parkinson's disease, familial Cri-du-chat syndrome, mental retardation Taste receptor Leigh syndrome Hirschsprung disease Severe combined immunodeficiency Dwarfism Dopamine receptor Coagulation factor XIII Anemia, megaloblastic Muscular dystrophy, limb-girdle, type 2E Maple syrup urine disease, type Ib Hemochromatosis Mast cell leukemia Germ cell tumors Diphtheria toxin receptor Colorectal cancer Tumor necrosis factor (cachectin) Retinitis pigmentosa Polycystic kidney disease, adult, type II Severe combined immunodeficiency Macular dystrophy Startle disease, autosomal dominant and recessive Hair color, red Gluten-sensitive enteropathy (celiac disease) Coagulation factor XI Diabetes mellitus, insulin-dependent Coagulation factor XII (Hageman factor) Pancreatitis, hereditary Estrogen receptor Parkinson disease, juvenile, type 203 million bases 194 million bases 183 million bases Sickle cell anemia Thalassemias, beta Lambert-Eaton syndrome Severe combined immunodeficiency disease, Athabascan Deafness, autosomal recessive Moebius syndrome Cyclin-dependent kinase inhibitor Taste receptors Osteoporosis Deafness, autosomal recessive Colorectal cancer Adrenoleukodystrophy Rickets, vitamin D-resistant Spastic paraplegia McArdle disease Multiple myeloma Split hand/foot malformation, type Alcohol intolerance, acute Diabetes mellitus, insulin-dependent Glaucoma Phenylketonuria 10 11 12 144 million bases 144 million bases 143 million bases ix For Your Reference Pancreatic agenesis Prader-Willi/Angelman syndrome (paternally imprinted) Eye color, brown Chorea, hereditary benign X-ray sensitivity Oligodontia Spinocerebellar ataxia Osteosarcoma Bladder cancer Albinism, oculocutaneous, type II and ocular Hair color, brown Meniere disease Muscular dystrophy, limb-girdle, type 2A Dyslexia DNA mismatch repair gene MLH3 Diabetes mellitus, insulin-dependent Glycogen storage disease Wilson disease Alzheimer's disease Machado-Joseph disease Marfan syndrome Tay-Sachs disease Hypercholesterolemia, familial, autosomal recessive 13 14 15 114 million bases 109 million bases 106 million bases Hirschsprung disease Eye color, green/blue Low density lipoprotein receptor Alzheimer disease, late onset Severe combined immunodeficiency disease DNA ligase I deficiency Maple syrup urine disease, type Ia x Insomnia, fatal familial Alzheimer's disease, APP-related Gigantism Amytrophic lateral sclerosis Down syndrome (critical region) Colon cancer Breast cancer Prion protein Hair color, brown 19 20 21 67 million bases 72 million bases 50 million bases ... references and index ISBN 0-02-865606-7 (set : hd.) Genetics Encyclopedias [DNLM: Genetics Encyclopedias—English Genetic Diseases, Inborn—Encyclopedias—English Genetic Techniques—Encyclopedias—English... schizophrenia and manic depression David Lykken, a genetic psychologist at the University of Minnesota, coined the term “emergenesis” to describe multiple gene interactions involved in a specific... Melvin Duke Center for Human Genetics Gene Therapy: Ethical Issues Pedigree Ralph R Meyer University of Cincinnati Biotechnology and Genetic Engineering, History of Chromosome, Eukaryotic Genetic