Medical Genetics Updated Edition for 2006 - 2007 , Edition 3

by Lynn B. Jorde; John C. Carey; Michael J. Bamshad,

• ISBN13: 9780323040358
• ISBN10: 0323040357
• Format: Nonspecific Binding
• Copyright: 2005-11-03
• Publisher: MOSBY

Summary

The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience. Covers ethical, legal, and social issues relevant to medical genetics. Provides clinical commentary on important genetic diseases. Demonstrates Clinical relevance in over 250 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Includes STUDENT CONSULT access: www.studentconsult.com is an innovative website that allows you to build a personalized, fully integrated, online library, where you'll find... The entire contents of every STUDENT CONSULT title you purchase. Powerful search capabilities- View all excerpts relevant to keyword or subject searches (up to 300 words per hit) from every book in the series. Image library POCKET Consult- Download portions of your personal library onto your handheld. Student resources- Sharpen your skills, stay informed, and have fun! More! Updates all references to books, journals, and websites. Provides the latest information on the 'final' human genome sequence, new technologies and recent discoveries to keep you up to date in these important areas.

Table of Contents

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)
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)
Genetic Variation: Its Origin and Detection	29	(28)
Mutation: The Source of Genetic Variation	29	(12)
Detection and Measurement of Genetic Variation	41	(16)
Autosomal Dominant and Recessive Inheritance	57	(31)
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	88	(19)
X Inactivation	88	(2)
Sex-Linked Inheritance	90	(11)
Sex-Limited and Sex-Influenced Traits	101	(1)
Mitochondrial Inheritance	101	(6)
Clinical Cytogenetics: The Chromosomal Basis of Human Disease	107	(29)
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)
Biochemical Genetics: Disorders of Metabolism	136	(24)
Variants of Metabolism	136	(3)
Defects of Metabolic Processes	139	(16)
Pharmacogenetics	155	(5)
Gene Mapping and Cloning	160	(33)
Genetic Mapping	161	(13)
Physical Mapping and Cloning	174	(19)
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)
Developmental Genetics	209	(19)
Development: Basic Concepts	209	(1)
Genetic Mediators of Development: The Molecular Toolbox	210	(6)
Pattern Formation	216	(12)
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)
Multifactorial Inheritance and Common Diseases	248	(30)
Principles of Multifactorial Inheritance	248	(7)
Nature and Nurture: Disentangling the Effects of Genes and Environment	255	(3)
The Genetics of Common Diseases	258	(20)
Genetic Testing and Gene Therapy	278	(27)
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)
Clinical Genetics and Genetic Counseling	305	(22)
The Principles and Practice of Clinical Genetics	305	(11)
Dysmorphology and Clinical Teratology	316	(5)
Bioethics and Medical Genetics	321	(6)
Answers to Study Questions	327	(12)
Glossary	339	(14)
Index	353