1. molecular disease 2. inborn errors of metabolism

1. chromatin 2.Chomosome 3. Sex chromosome and sex-determination 4. chromosomal polymorphism 5. An International System for Human Cytogenetic Nomenclature

1. Mitochondrial DNA 2. mtDNA replication 3. Mitochondrial Inheritance

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. 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

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

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

A.The human genome and its chromosomes B. The origin of chromosome abnormalities C. Chromosome disorders