Medical Genetics

1 Background and History 1
2 Basic Cell Biology: Structure and Function of Genes and
Chromosomes 6
3 Genetic Variation: Its Origin and Detection 29
4 Autosomal Dominant and Recessive Inheritance 58
5 Sex-Linked and Mitochondrial Inheritance 89
6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease
108
7 Biochemical Genetics: Disorders of Metabolism 136
8 Gene Mapping and Cloning 156
9 Immunogenetics 188
10 Developmental Genetics 204
11 Cancer Genetics 221
12 Multifactorial Inheritance and Common Disease 240
13 Genetic Screening, Genetic Diagnosis, and Gene Therapy 266
14 Clinical Genetics and Genetic Counseling 290
Answers to Study Questions 309
Glossary 319