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

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

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

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

1. factors inducing chromosome aberration 2. chromosomal aberrations

1. molecular disease 2. inborn errors of metabolism