MLAB 2378 Fundamentals of Molecular Diagnostics
 

Unit 10 Objectives - Chromosomal Structure and Chromosomal Mutations
Textbook Chapter 8

  1. Distinguish the three types of DNA mutations: genome, chromosomal and gene.
  2. Describe how some polymorphisms can be a beneficial trait to an individual.
  3. Briefly describe how DNA is compacted into the chromosome.
  4. Describe why banding patterns are important in chromosome analysis.
  5. Given a karyotype identify normal, monploid and triploid chromosomes.
  6. Diagram a human chromsome and label the centromere, q arm, p arm and telomere.
  7. Given a diagram as illustrated in Figure 8-14 in Chapter 8 identify the mutation.
  8. State the principle of the fluorescent in situ hybridization (FISH) technique.
  9. Define or describe the terms listed in the "Unit 10 Glossary of Terms".

Karyotype from a human female lymphocyte probed for the Alu sequence using FISH.

Last Update: April 2, 2015
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