MLAB 2321 Molecular Diagnostics for Clinical Laboratory Science
 

Unit 15 Objectives- Molecular Detection of Inherited Diseases
Textbook Chapter 13

  1. List and describe three types of polymorphisms.
  2. List and describe the three forms of epigenetic changes.
  3. Compare germ cell mutations with somatic cell mutations.
  4. List four potential causes of congenital disorders.
  5. List three methods used to detect genome mutations.
  6. List six structural alterations.
  7. List four causes of structural mutations.
  8. List and describe the three main transmission patterns of inheritance.
  9. List four affects of single-gene disorders.
  10. Describe the following single gene disorders and state a test to aid in the diagnosis: Lysosomal storage disease, Factor V Leiden, hemaochromatosis, Cystic Fibrosis and Cytochrome P-450.
  11. Describe the following single gene disorders with non-classical patterns of inheritance and state a test to aid in the diagnosis: mitochondrial mutations, genomic imprinting and gonadal mosaicism.
  12. Describe the following trinucleotide repeat expansion disorders and state a test to aid in the diagnosis: Fragile X syndrome, Huntington's Diseae, and ideopathic congenital central hypoventilation syndrome.
  13. Given a pedigree illustrating hereditary transmission of the disease state the type of transmission.
  14. Describe multifactorial inheritance.
  15. List three limitations for molecular testing.
  16. Define or describe the terms listed in the "Unit 15 Glossary of Terms".

Autosomal Recessive inheritance

Autosomal Dominant inheritance

 

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