MLAB 2321 Molecular Diagnostics for Clinical Laboratory Science

Unit 13 Objectives- DNA Polymorphisms and Human Identification
Textbook Chapter 11

  1. Compare and contrast different types of polymorphisms.
  2. Define restriction fragment length polymorphism and discuss how they are used in genetic mapping, parentage testing and human identification.
  3. Describe the structureal differences between: restriction fragment length polymorphism, variable number tandem repeats, short tandem repeats and single nucleotide polymorphisms.
  4. State the purpose of the Standard Reference Materials.
  5. State how a disease can be determined to have a genetic component.
  6. Interpret the results of a RFLP analysis.
  7. State the minimum number of loci required for parentage testing analysis.
  8. List three advantages that testing for short tandem repeats (STR) has over variable number tandem repeats (VNTR).
  9. State the preferred method for analyzing STR results.
  10. Briefly describe the procedure for analyzing DNA for genotyping purposes.
  11. Describe how the use of fluorescent dyes has enhanced the ease and sensitivity of STR allele identification.
  12. State the organization which developed a standardized STR nomenclature.
  13. Explain what "D#S#" indicates.
  14. Explain why intergel precision is less stringent than intragel precision.
  15. Describe how normalization of migration is achieved.
  16. Describe the process of creating a bin.
  17. List three types of samples which will affect the match probability.
  18. Describe how individual allele frequencies are determined.
  19. State the two hypotheses involved in paternity testing.
  20. State why non-matching alleles at a single locus cannot be utilized to exclude paternity.
  21. State the two elements of the probability of paternity.
  22. Describe the use of Y-STR in forensic and lineage studies.
  23. List three sources of tissue for bone marrow transplants.
  24. Compare myeloablative and nonmyeloablative transplant procedures.
  25. State the method of choice for monitoring the success of a bone marrow transplant.
  26. State why PCR amplification of VNTRs and STRs is preferable to RFLP for testing to detect the presence of donor DNA in a bone marrow transplant recipient.
  27. State the three different states which may be detected in a post bone marrow transplant recipient.
  28. State the preferred amplification, resolution and detection methods for post bone marrow transplant analysis.
  29. List the two clinical samples which are routinely used for DNA allele screening prior to transplant.
  30. List and describe the three approaches use to map genes.
  31. Describe role of molecular diagnostics in quality assurance of surgical sections.
  32. State the potential advantages of completing the Human Haplotype Mapping (HapMap) project.
  33. Describe the usefuleness of mitochondiral DNA (mtDNA) in forensics anddisease states.
  34. State the genetic source of mtDNA
  35. Discuss the uses of mitochondrial DNA typing.
  36. Define or describe the terms listed in the "Unit 13 Glossary of Terms".

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