0. DNA and Chromosomes

• At times, a dominant allele is not fully expressed, a condition known as reduced penetrance.

1. Human Genome and Diseases

1.1 Autosomal Dominant Disorders

• ***Huntington’s Disease 亨廷顿舞蹈症***
• Polydactyly 多指畸形
• Achondroplasia 软骨发育不全
• ***Marfan syndrome 马方综合征***
• Familial hypercholesterolemia 家族性高胆固醇血症

1.2 Autosomal Recessive Disorders

• ***cystic fibrosis 囊性纤维化***
• Hemochromatosis 血色病
• Phenylketonuria (PKU) 苯丙酮尿症
• Galactosemia 半乳糖血症
• ***Sickle cell anemia 镰状细胞性贫血***
• Tay-Sachs 泰伊-萨克斯二氏病
• ***Albinism 白化病***