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***
• Polydactyly
• Achondroplasia
• ***Marfan syndrome***
• Familial hypercholesterolemia

1.2 Autosomal Recessive Disorders

• ***cystic fibrosis***
• Hemochromatosis
• Phenylketonuria (PKU)
• Galactosemia
• ***Sickle cell anemia***
• Tay-Sachs
• ***Albinism***