Medical Genetics - 3rd edition

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. Mutifactorial 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 Screening, Genetic Diagnosis, 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
Answers to Study Questions
Glossary