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| MEDICAL GENETICS UPDATED EDITION FOR 2006 - 2007
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With Student Consult Online Access
To order this title, and for more information, click here
Third Edition
By
Lynn Jorde, PhD, University of Utah Health Sciences Center, Salt Lake City, UT
John Carey, MD, University of Utah Health Sciences Center, Salt Lake City, UT
Michael Bamshad, MD, University of Utah Health Sciences Center, Salt Lake City, UT
Raymond White, PhD, University of Utah Health Sciences Center, Salt Lake City, UT
Description
The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print
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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.
Audience
Medical Students
Contents
1 Background and History, 1
What is Medical Genetics? 1
Why is a Knowledge of Medical Genetics Important for Today?s Health Care Practitioner?
1
A Brief History, 1
Types of Genetic Diseases, 3
The Clinical Impact of Genetic Disease, 4
2 Basic Cell Biology: Structure and
Function of Genes and Chromosomes, 6
DNA, RNA, and Proteins: Heredity at the Molecular Level, 7
The Structure of Genes and the Genome,
19
The Cell Cycle, 23
3 Genetic Variation: Its Origin and Detection , 29
Mutation – The Source of Genetic Variation, 29
Detection
and Measurement of Genetic Variation, 40 [this section will de-emphasize
RFLP technology, which is now quite dated, and will contain
more material on newer methods such as DNA chips, microarrays, and PCR-free detection of polymorphisms]
4 Autosomal Dominant and
Recessive Inheritance, 58
Basic Concepts of Formal Genetics, 58
Autosomal Dominant Inheritance, 64
Autosomal Recessive Inheritance, 66
Factors that May Complicate Inheritance Patterns, 69
Consanguinity in Human Populations, 84
5 Sex-Linked and Mitochondrial Inheritance,
89
X inactivation, 89
Sex-Linked Inheritance, 91
Sex-Limited and Sex-Influenced Traits, 102
Mitochondrial Inheritance
6 Clinical
Cytogenetics: The Chromosomal Basis of Human Disease, 108
Cytogenetic Technology and Nomenclature, 108
Abnormalities of Chromosome Number,
112
Chromosome Abnormalities and Pregnancy Loss, 122
Abnormalities of Chromosome Structure, 122
Chromosome Abnormalities and Clinical
Phenotype, 132
Cancer Cytogenetics, 133
Chromosome Instability Syndromes, 134
7 Biochemical Genetics: Disorders of Metabolism,
136
Variants of Metabolism, 136
Defects of Metabolic Processes, 137
Pharmacogenetics, 154 [this section will be expanded considerably
to deal with the new field of pharmacogenomics, using several examples in which genetic variation can be assayed to predict the efficacy
of specific drugs]
8 Gene Mapping and Cloning, 156
Genetic Mapping, 156
Physical Mapping and Cloning, 169
The Human Genome Project
[this section will deal with findings that have now emerged as a result of the near-completion of the genome project]
9 Immunogenetics,
188
The Immune Response: Basic Concepts, 188
Immune Response Proteins: Genetic Basis of Structure and Diversity, 193
The Major Histocampatibility
Complex, 195
The ABO and Rh Blood Groups, 200
Immunodeficiency Diseases, 201
10 Developmental Genetics, 204
Development: Basic
Concepts, 204
Genetic Mediators of Development: The Molecular Toolbox, 205
Pattern Formation, 209
11 Cancer Genetics, 221
Causes
of Cancer, 221
Cancer Genes, 223
Major Classes of Cancer Genes, 226
Identification of Inherited Cancer Genes, 231
Molecular Basis of
Cancer, 237
Is Genetic Inheritance Important in Common Cancers? 238
12 Multifactorial Inheritance and Common Diseases, 240
Principles
of Multifactorial Inheritance, 240
Nature and Nurture: Disentangling the Effects of Genes and Environment, 247
The Genetics of Common
Diseases, 250
13 Genetic Screening, Genetic Diagnosis, and Gene Therapy, 266
Population Screening for Genetic Diseases, 266
Molecular
Tools for Screening and Diagnosis, 272 [additional material will appear on the use of DNA chips and other new technologies for genetic
screening and diagnosis]
Prenatal Diagnosis of Genetic Disorders and Congenital Defects, 275
Fetal Treatment, 282
Gene Therapy, 283
Human
cloning, genetic enhancement, and embryonic stem cell research
14 Clinical Genetics and Genetic Counseling, 290
The Principles
and Practice of Clinical Genetics, 290
Dysmorphology and Clinical Teratology, 300
15 Genetics and Society
Genetics and Privacy
Genetic Discrimination
Societal Implications of New Genetic Technologies
Answers to Study Questions, 309
Glossary, 319
| Bibliographic details |
Paperback, 384 pages, publication date: DEC-2005
ISBN-13: 978-0-323-04035-8
ISBN-10: 0-323-04035-7
Imprint: MOSBY
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Last update: 13 Jun 2009
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