Medical genetics /
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| Edition: | 2nd ed. (revised reprint). |
|---|---|
| Imprint: | St. Louis : Mosby, c2000. |
| Description: | xii, 372 p., [4] p. of plates : ill. (some col.) ; 28 cm. |
| Language: | English |
| Subject: | |
| Format: | Print Book |
| URL for this record: | http://pi.lib.uchicago.edu/1001/cat/bib/4428060 |
Table of Contents:
- 1. Background and History
- What is Medical Genetics?
- Why Is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner?
- A Brief History
- Types of Genetic Diseases
- The Clinical Impact of Genetic Disease
- 2. Basic Cell Biology: Structure and Function of Genes and Chromosomes
- DNA, RNA, and Proteins: Heredity at the Molecular Level
- The Structure of Genes and the Genome
- The Cell Cycle
- 3. Genetic Variation: Its Origin and Detection
- Mutation: The Source of Genetic Variation
- Detection and Measurement of Genetic Variation
- 4. Autosomal Dominant and Recessive Inheritance
- Basic Concepts of Formal Genetics
- Autosomal Dominant Inheritance
- Autosomal Recessive Inheritance
- Factors That May Complicate Inheritance Patterns
- Consanguinity in Human Populations
- 5. Sex-Linked and Mitochondrial Inheritance
- X Inactivation
- Sex-Linked Inheritance
- Sex-Limited and Sex-Influenced Traits
- Mitochondrial Inheritance
- 6. Clinical Cytogenetics: The Chromosomal Basis of Human Disease
- Cytogenetic Technology and Nomenclature
- Abnormalities of Chromosome Number
- Chromosome Abnormalities and Pregnancy Loss
- Abnormalities of Chromosome Structure
- Chromosome Abnormalities and Clinical Phenotypes
- Cancer Cytogenetics
- Chromosome Instability Syndromes
- 7. Biochemical Genetics: Disorders of Metabolism
- Variants of Metabolism
- Defects of Metabolic Processes
- Pharmacogenetics
- 8. Gene Mapping and Cloning
- Genetic Mapping
- Physical Mapping and Cloning
- 9. Immunogenetics
- The Immune Response: Basic Concepts
- Immune Response Proteins: Genetic Basis of Structure and Diversity
- The Major Histocompatibility Complex
- The ABO and Rh Blood Groups
- Immunodeficiency Diseases
- 10. Developmental Genetics
- Development: Basic Concepts
- Genetic Mediators of Development: The Molecular Toolbox
- Pattern Formation
- 11. Cancer Genetics
- Causes of Cancer
- Cancer Genes
- Major Classes of Cancer Genes
- Identification of Inherited Cancer Genes
- Molecular Basis of Cancer
- Is Genetic Inheritance Important in Common Cancers?
- 12. Multifactorial Inheritance and Common Diseases
- Principles of Multifactorial Inheritance
- Nature and Nurture: Disentangling the Effects of Genes and Environment
- The Genetics of Common Diseases
- 13. Genetic Testing and Gene Therapy
- Population Screening for Genetic Disease
- Molecular Tools for Screening and Diagnosis
- Prenatal Diagnosis of Genetic Disorders and Congenital Defects
- Fetal Treatment
- Gene Therapy
- 14. Clinical Genetics and Genetic Counseling
- The Principles and Practice of Clinical Genetics
- Dysmorphology and Clinical Teratology
- Bioethics and Medical Genetics
- Answers to Study Questions
- Glossary
- Index
