Chapter 5.3

Genetic Diseases Objectives and Resources

This section discusses the molecular testing used to help detect genetic diseases.  The main patterns of mendelian inheritance and non-mendelian inheritance are discussed.  The PowerPoint also describes chromosomal abnormalities and their detection by karyotyping, flow cytometry, and FISH as well as detection by molecular techniques..  Explanation of terminology used in cytogenetics and examples of various diseases, including single gene, trinucleotide expansion disorders, and genomic imprinting are included. (44 slides) 



  • Describe the three main patterns of mendelian inheritance
  • Discuss laboratory methods to detect common single-gene disorders
  • Discuss non-mendelian inheritance
  • Discuss how genomic imprinting can affect disease phenotype

Readings:  MD, Chapter 13