1. Pedigree and Proband 2. autosomal dominant inheritance 3. AUTOSOMAL RECESSIVE INHERITANCE 4. X-LINKED DOMINANT INHERITANCE 5. X-LINKED RECESSIVE INHERITANCE 6. Y-linked 7. SPECIAL FEATURES

1.Genes can be mutated in many ways 2. Somatic versus germline mutations 3. Types of mutation effects

1. Mutagens or Mutagenic Agents 2. Mechanism of Mutation 3. Result of mutation 4.functional effects of the change. 5.Genetic Effects of mutation 6. Repair of Mutation

1. Gene Chemistry 2. Gene Structure 3. DNA replication 4. Gene Expression

Introduction Genetic Defects Neural Tube Defect Mouth/facial defects Limb defects Congenital Heart Defects Summary

1. What is gene therapy? 2. How does gene therapy work? 3. The current status of gene therapy research 4. Factors kept gene therapy effective 5. Some recent developments 6. Some of the ethical considerations

1. Genetic Counselors 2. Who Should See One 3. What to Expect During a Visit 4. After Counseling

1.Genes can be mutated in many ways 2. Somatic versus germline mutations 3. Types of mutation effects

A. Historical background B. Phenotypes in populations C.Genes in populations D.Mapping disease genes E. Complex disorders

复旦大学：《医学遗传学 Medical Genetics》课程教学资源（课件讲稿）Single gene disorder_Alexander Endler