复旦大学：《医学遗传学 Medical Genetics》课程教学资源（课件讲稿）Chromosome related diseases and Chromosomal disorders Alexander Endler

A. Historical Background B. Patterns of inheritance C. Genetic mutations D. Prenatal diagnosis

1. Indications for prenatal diagnosis 2. Methods for obtaining fetal tissues for prenatal diagnosis 3. Analytical methods 4. New methods for prenatal diagnosis

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

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

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

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

1. REGRESSION TO THE MEAN 2. POLYGENIC INHERITANCE 3. THE MULTIFACTORIAL MODEL 4. THRESHOLD MODEL OF DISEASE 5. SEVERITY OF DISEASE AND RECURRENCE RISK 6. MULTIPLE AFFECTED OFFSPRING AND 7. CONSANGUINITY 8. HALLMARKS OF MULTIFACTORIAL INHERITANCE

1. Variability and Gene (or Allelic) Frequencies 2. The Hardy-Weinberg Law 3. Factors that Affect Stability of Gene Frequencies