1. General 2. Etiology 3. Symptoms and Signs 4. Diagnosis

1. Biochemical & Genetic abnormalities 2. The Symptoms of Mitochondrial Disease 3. LHON 4. MERRF 5. MELAS 6. Kearns-Sayre Syndrome 7.Mitochondrial Disease Treatment 8. The Prognosis 9. Future Goals

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

吉林大学：《医学遗传学》课程电子教案（PPT课件）基因操作（重组DNA技术、目的基因的获得和检测）

• 重组DNA（分子克隆） • 分子杂交

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

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

Medical Genetics Mutations (changes) in the mitochondrial chromosome are responsible for a number of disorders

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