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

概述 门静脉高压症(portal hypertension,PH): 是指由各种原因引起的门静脉系统血流受阻和 (或)血流量增加,导致门静脉及其属支血管 压力升高,临床表现为脾大、门腔静脉侧支循 环形成和开放以及腹水。 ·正常门静脉压约在1.27~2.35kPa(13~ 24cmH2O)之间,平均为 1.76ka(18cmH2O)左右。门静脉高压时, 压力大都增至2.9~4.9kPa(30~ 50cmH20

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