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(Download PDF) Genetic Disorders Sourc7Th Edition Angela L Williams Online Ebook All Chapter PDF
(Download PDF) Genetic Disorders Sourc7Th Edition Angela L Williams Online Ebook All Chapter PDF
(Download PDF) Genetic Disorders Sourc7Th Edition Angela L Williams Online Ebook All Chapter PDF
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Health Reference Series
Genetic Disorders
SOURCEBOOK
SEVENTH EDITION
Along with Information about the Human Genome Project, Genetic Testing and Newborn
Screening, Gene Therapy and Other Current Research Initiatives, the Special Needs of
Children with Genetic Disorders, a Glossary of Terms, and a Directory of Resources for
Further Help and Information
Genetic Disorders
SOURCEBOOK
SEVENTH EDITION
Health Reference Series
Genetic Disorders
SOURCEBOOK
SEVENTH EDITION
Basic Consumer Health Information about Heritable Disorders, Including Disorders Resulting from
Abnormalities in Specific Genes, Such as Hemophilia, Sickle Cell Disease, and Cystic Fibrosis,
Chromosomal Disorders, Such as Down Syndrome, Fragile X Syndrome, and Klinefelter
Syndrome, and Complex Disorders with Environmental and Genetic Components, Such as
Alzheimer Disease, Cancer, Heart Disease, and Obesity
Along with Information about the Human Genome Project, Genetic Testing and Newborn
Screening, Gene Therapy and Other Current Research Initiatives, the Special Needs of Children
with Genetic Disorders, a Glossary of Terms, and a Directory of Resources for Further Help and
Information
***
OMNIGRAPHICS
Angela L. Williams, Managing Editor
***
Copyright © 2019 Omnigraphics
ISBN 978-0-7808-1694-7
E-ISBN 978-0-7808-1696-1
This book is printed on acid-free paper meeting the ANSI Z39.48 Standard. The infinity
symbol that appears above indicates that the paper in this book meets that standard.
Printed in the United States
Table of Contents
Preface������������������������������������������������������������������������������������������ xiii
v
Chapter 8—Preventing Genetic Discrimination����������������������� 71
vi
Section 17.2—Congenital
Hypothyroidism���������������������� 184
Section 17.3—Kallmann Syndrome��������������� 186
vii
Section 23.6—Maple Syrup Urine
Disease������������������������������������ 281
Section 23.7—Medium-Chain
Acyl-Coenzyme A
Dehydrogenase Deficiency������ 283
Section 23.8—Methylmalonic Acidemia�������� 285
Section 23.9—Phenylketonuria��������������������� 287
Section 23.10—Tyrosinemia���������������������������� 289
Section 23.11—Urea Cycle Defect������������������� 291
viii
Chapter 30—Noonan Syndrome������������������������������������������������ 373
Chapter 31—Porphyria��������������������������������������������������������������� 377
Chapter 32—Retinoblastoma����������������������������������������������������� 383
Chapter 33—Rett Syndrome������������������������������������������������������ 395
Chapter 34—Tuberous Sclerosis������������������������������������������������ 405
Chapter 35—Vision Disorders���������������������������������������������������� 413
Section 35.1—Color Vision Deficiency����������� 414
Section 35.2—Early-Onset Glaucoma����������� 421
Section 35.3—Retinitis Pigmentosa�������������� 423
Section 35.4—X-Linked Juvenile
Retinoschisis��������������������������� 429
ix
Chapter 45—Turner Syndrome�������������������������������������������������� 509
Chapter 46—Velocardiofacial Syndrome����������������������������������� 517
Chapter 47—Williams Syndrome���������������������������������������������� 521
x
Section 54.1—Looking at My Genes:
What Can They Tell Me
about My Mental Health?������ 576
Section 54.2—Genetic Links in Bipolar
Disorder����������������������������������� 580
Section 54.3—Genetic Links in
Obsessive-Compulsive
Disorder����������������������������������� 581
Section 54.4—Genetic Links in
Schizophrenia�������������������������� 583
xi
Chapter 65—Next Steps in Genomic Research������������������������� 641
Chapter 66—DNA Sequencing��������������������������������������������������� 647
Index������������������������������������������������������������������������������������������� 729
xii
Preface
xiii
and environmental components explains the hereditary components of
Alzheimer disease, cancer, diabetes, mental illness, obesity, addiction,
and others.
Reports on current research initiatives provide detailed information
on the newest breakthroughs in the causes and treatments of genetic
disorders, including strategies—such as gene therapy, nutrigenomics,
and pharmacogenetics—that could radically change how these disor-
ders are treated in the future. A section for parents of children with
genetic disorders offers information about assistive technologies, edu-
cational options, transition to adulthood, and estate planning. Informa-
tion about genetic counseling, prenatal testing, newborn screening, and
preventing genetic discrimination is also provided. The book concludes
with a glossary of genetic terms and a list of resources for additional
help and information.
xiv
mental-health disorders, heart disease, diabetes, cancer, and other dis-
orders with both genetic and environmental components. It describes
the genetic associations related to each disorder and discusses the
research advances that may lead to improved prevention efforts and
treatment outcomes.
Part V: Genetic Research describes recent advances in the field of genet-
ics as doctors seek ways to use knowledge of an individual’s genetic
background to target disease prevention and treatment techniques. It
includes a discussion of what has been discovered during the course of
the Human Genome Project and describes promising new avenues of
research, including pharmacogenomics and gene therapy.
Part VI: Information for Parents of Children with Genetic Disorders
addresses the challenges of raising special needs children. It discusses
early interventions, assistive technologies, educational concerns, and
the transition into adulthood. The part also explains government ben-
efits available to children and adults with disabilities and offers estate
planning information for families of children with special needs.
Part VII: Additional Help and Information includes a glossary of terms
related to human genetics and a directory of resources offering addi-
tional help and support.
Bibliographic Note
This volume contains documents and excerpts from publications
issued by the following U.S. government agencies: Center for Parent
Information and Resources (CPIR); Centers for Disease Control and
Prevention (CDC); Child Welfare Information Gateway; Eunice Ken-
nedy Shriver National Institute of Child Health and Human Develop-
ment (NICHD); Genetic and Rare Diseases Information Center (GARD);
Genetics Home Reference (GHR); MedlinePlus; National Cancer Insti-
tute (NCI); National Eye Institute (NEI); National Heart, Lung, and
Blood Institute (NHLBI); National Human Genome Research Institute
(NHGRI); National Institute of Arthritis and Musculoskeletal and
Skin Diseases (NIAMS); National Institute of Diabetes and Digestive
and Kidney Diseases (NIDDK); National Institute of Environmental
Health Sciences (NIEHS); National Institute of General Medical Sci-
ences (NIGMS); National Institute of Mental Health (NIMH); National
Institute of Neurological Disorders and Stroke (NINDS); National
Institute on Aging (NIA); National Institute on Deafness and Other
Communication Disorders (NIDCD); National Institute on Drug Abuse
xv
Cells and DNA: The Basics
where genes are turned on and off. Such elements provide sites for
specialized proteins (called “transcription factors”) to attach (bind) and
either activate or repress the process by which the information from
genes is turned into proteins (transcription). Noncoding DNA contains
many types of regulatory elements:
• Promoters provide binding sites for the protein machinery that
carries out transcription. Promoters are typically found just
ahead of the gene on the DNA strand.
• Enhancers provide binding sites for proteins that help activate
transcription. Enhancers can be found on the DNA strand before
or after the gene they control, which are sometimes far away on
the DNA strand.
• Silencers provide binding sites for proteins that repress
transcription. Like enhancers, silencers can be found before or
after the gene they control and can be some distance away on
the DNA strand.
• Insulators provide binding sites for proteins that control
transcription in a number of ways. Some prevent enhancers
from aiding in transcription (enhancer-blocker insulators).
Others prevent structural changes in the DNA that repress gene
activity (barrier insulators). Some insulators can function as
both an enhancer blocker and a barrier.
9
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