Medical Genetics

by Jorde, Lynn B.; Carey, John C., M.D.; Bamshad, Michael J., M.D.; White, Raymond L., Ph.D.; Jorde, Lynn B.

• ISBN13: 9780323020251
• ISBN10: 0323020259
• Format: Paperback
• Copyright: 2003-08-01
• Publisher: Elsevier Science Health Science div

Summary

This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features. Features mini-summaries that appear in bold throughout each chapter. Supplies study questions and suggested readings at the end of each chapter. Contains a detailed glossary at the end of the book. Offers Clinical Commentary boxes that present detailed coverage of the most important genetic diseases and provide examples of modern clinical management. Demonstrates clinical relevance with boxed patient/family vignettes and coverage of ethical, legal, and social issues. Provides visual reinforcement and easy access to key information with over 230 photographs, illustrations, and tables. Includes a companion website with continuing content updates, additional clinical images, and more! Explores new technologies, including microarrays (e.g., DNA chips) and PCR-free detection of polymorphisms. Offers new material on pharmacogenomics, a field of study based on the principles of pharmacogenetics where genetic variation is assessed in order to predict a patient's response to specific drugs, including potential adverse reactions. Includes a new chapter, Genetics and Society, that discusses privacy, discrimination, and the societal implications of new genetic technologies Devotes a new section to the advances made possible by The Human Genome Project, such as the use of genomics databases to identify disease-causing genes. Contains a new section on Human Cloning, Genetic Enhancement, and Embryonic Stem Cell Research. Updates the Cancer Genetics chapter with information on new tumor suppressor genes and oncogenes, including discussion of their roles in carcinogenesis Expands the section, The Genetics of Common Diseases, with new information on genes predisposing to hypertension, type 2 diabetes, Alzheimer's disease, obesity, heart disease, and stroke.

Author Biography

Lynn B. Jorde, PhD Professor, Department of Human Genetics University of Utah Health Sciences Center, Salt Lake City John C. Carey, MD Professor, Division of Medical Genetics Department of Pediatrics University of Utah Health Sciences Center, Salt Lake City Michael J. Bamshad, MD Associate Professor, Department of Pediatrics University of Utah Health Sciences Center, Salt Lake City Raymond L. White, PhD Director, Ernest Gallo Clinic and Research Center University of California, San Francisco

Table of Contents

1 Background and History	1	(5)
What is Medical Genetics?	1	(1)
Why Is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner?	1	(1)
A Brief History	1	(2)
Types of Genetic Diseases	3	(1)
The Clinical Impact of Genetic Disease	4	(2)
2 Basic Cell Biology: Structure and Function of Genes and Chromosomes	6	(23)
DNA, RNA, and Proteins: Heredity at the Molecular Level	6	(11)
The Structure of Genes and the Genome	17	(5)
The Cell Cycle	22	(7)
3 Genetic Variation: Its Origin and Detection	29	(22)
Mutation: The Source of Genetic Variation	29	(12)
Detection and Measurement of Genetic Variation	41	(10)
4 Autosomal Dominant and Recessive Inheritance	51	(15)
Basic Concepts of Formal Genetics	57	(6)
Autosomal Dominant Inheritance	63	(2)
Autosomal Recessive Inheritance	65	(3)
Factors That May Complicate Inheritance Patterns	68	(15)
Consanguinity in Human Populations	83
5 Sex-linked and Mitochondrial Inheritance	66	(35)
X Inactivation	88	(2)
Sex-Linked Inheritance	90	(11)
Sex-Limited and Sex-Influenced Traits	101	(1)
Mitochondrial Inheritance	101	(1)
6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease	101	(35)
Cytogenetic Technology and Nomenclature	107	(4)
Abnormalities of Chromosome Number	111	(9)
Chromosome Abnormalities and Pregnancy Loss	120	(2)
Abnormalities of Chromosome Structure	122	(8)
Chromosome Abnormalities and Clinical Phenotypes	130	(2)
Cancer Cytogenetics	132	(1)
Chromosome Instability Syndromes	133	(3)
7 Biochemical Genetics: Disorders of Metabolism	136	(24)
Variants of Metabolism	136	(3)
Defects of Metabolic Processes	139	(16)
Pharmacogenetics	155	(5)
8 Gene Mapping and Cloning	160	(33)
Genetic Mapping	161	(13)
Physical Mapping and Cloning	174	(19)
9 Immunogenetics	193	(16)
The Immune Response: Basic Concepts	193	(5)
Immune Response Proteins: Genetic Basis of Structure and Diversity	198	(2)
The Major Histocompatibility Complex	200	(5)
The ABO and Rh Blood Groups	205	(1)
Immunodeficiency Diseases	206	(3)
10 Developmental Genetics	209	(19)
Development: Basic Concepts	209	(1)
Genetic Mediators of Development: The Molecular Toolbox	210	(6)
Pattern Formation	216	(12)
11 Cancer Genetics	228	(20)
Causes of Cancer	229	(1)
Cancer Genes	230	(2)
Major Classes of Cancer Genes	232	(6)
Identification of Inherited Cancer Genes	238	(8)
Molecular Basis of Cancer	246	(1)
Is Genetic Inheritance Important in Common Cancers?	246	(2)
12 Multifactorial Inheritance an Common Diseases	248
Principles of Multifactorial Inheritance	248	(7)
Nature and Nurture: Disentangling the Effects of Genes and Environment	255	(3)
The Genetics of Common Diseases	258
13 Genetic Testing a Gene Therapy	218	(87)
Population Screening for Genetic Disease	278	(6)
Molecular Tools for Screening and Diagnosis	284	(4)
Prenatal Diagnosis of Genetic Disorders and Congenital Defects	288	(7)
Fetal Treatment	295	(1)
Gene Therapy	296	(9)
14 Clinical Genetics and Genetic Counseling	305	(16)
The Principles and Practice of Clinical Genetics	305	(11)
Dysmorphology and Clinical Teratology	316	(5)
Bioethics and Medical Genetics	321	(1)
Answers to Study Questions	321	(9)
Glossary	330	(23)
Index	353