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

1. Down syndrome 2. Trisomy 18 3. Patau syndrome 4. cri du cat syndrome 5. Klinefelter syndrome 6. Turner syndrome

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

一、重组DNA技术 二、分子杂交技术 三、PCR技术及应用

1. molecular disease 2. inborn errors of metabolism

1. factors inducing chromosome aberration 2. chromosomal aberrations

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

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

1 性染色体决定性别的类型； 2 各种性连锁遗传的特点； 3 交换值的测定； 4 用两点测验和三点测验进行基因定位；

一、概念：重复；缺失；倒位；易位；假显性；假连锁；交换抑制因子；Schultz-Redfield效应；平衡致死系；染色体组；单倍体；二倍体；多倍体；单体；缺体；三体；四体；双三体