Monogenic Disorders

In this lab, you will learn about the monogenic disorder Cystic Fibrosis and its inheritance from one generation to the next. You will also understand how a single gene mutation leads to a dysfunctional, disease-causing protein. Finally, you will consult a young, Danish couple on the potential risk for their future children to develop Cystic Fibrosis.

The following is a list of relevant theory pages.

Genetics

• Genotype
• Phenotype
• Zygosity
  • Homozygous
  • Heterozygous
  • Hemizygous
• Pedigree tree
• Mode of inheritance
  • Autosomal dominant
  • Autosomal recessive
  • X-linked dominant
  • X-linked recessive

Genetic disorders

• Risk calculation inheritance
• Monogenic disorders
  • Cystic fibrosis
  • Diagnosis

Techniques

• Genotyping
• PCR
• DNA sequencing
• Gel electrophoresis
• Capillary electrophoresis
• Protein Truncation Test