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Difference between revisions of "Libre Pathology talk:Study Group"
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→Short answer questions on genetics and molecular pathology.: new section
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[[User:Michael|Michael]] ([[User talk:Michael|talk]]) 23:43, 25 October 2014 (EDT) | [[User:Michael|Michael]] ([[User talk:Michael|talk]]) 23:43, 25 October 2014 (EDT) | ||
== Short answer questions on genetics and molecular pathology. == | |||
These are some questions I came up with, I am going to post the answers as a second page so if you want you can write it as an exam. | |||
UNIT 1 | |||
1. List three differences between DNA and RNA. | |||
2. What are the three stop codons? | |||
3. Where does transcription begin? | |||
4. List three enzymes necessary for transcription and their function. | |||
5. List and describe four post transcription modifications of RNA. | |||
6. List three differences between somatic and germline mutations. | |||
7. What is the difference between a missense and a non-sense mutation? | |||
8. Define a frameshift mutation. | |||
9. Why are inversion mutations difficult to detect? | |||
10. Describe the potential sequelae of a translocation mutation. | |||
UNIT 2 | |||
1. Translate the following: c.1524_1527delCGTA. | |||
2. List 5 features of SNPs. | |||
3. Define a regulatory SNP and a synonymous SNP? | |||
4. What is the difference between a microstalellite and a minisattelite? | |||
5. Describe Hardy-Weinberg Equilibrium? | |||
6. What factors can disrupt the H-W equilibrium? | |||
7. What is linkage disequilibrium? | |||
UNIT 3 | |||
1. What are the three major steps of PCR? | |||
2. What is the hallmark of PCR? | |||
3. What factors affect the method of genotyping chosen? | |||
4. Define sensitivity, specificity, positive predictive value and negative predictive value. | |||
5. Define reproducibility and accuracy of an analytical test. | |||
6. Describe briefly Sanger sequencing. | |||
7. Describe briefly how Taqman automated genotyping is used for allele detection. | |||
8. How are DNA microarrays used to identify drug disposition or responses? | |||
UNIT 4 | |||
1. Describe the procedure for submitting FFPE slides for KRAS for colorectal cancer. | |||
2. Compare and contrast uniplex versus multiplex genotyping. | |||
3. Compare and contrast conventional vs massively parallel sequencing. | |||
4. What is multiplex ligation-dependent ligation (MLPA)? | |||
5. What is fragment analysis? | |||
6. Compare and contrast RT-PCR vs qRTPCR. | |||
7. What is MSI? | |||
8. What is methylation analysis? | |||
UNIT 5 | |||
1. What are the four test features required to be documented by the CLIA? | |||
2. What are "in vitro diagnostics" vs "laboratory developed tests"? | |||
3. What does validation mean? | |||
4. What are the four performance characteristics that need to be verified for FDA cleared/approved tests? | |||
5. What are the six performance characteristics that need to be verified for FDA cleared LDTs or modified FDA cleared/approved tests? | |||
UNIT 6 | |||
1. List the components of a molecular pathology report. | |||
2. Define analytical sensitivity and clinical sensitivity. | |||
3. What should be said in a report of a molecular test on a patient for residual disease if no previous positive assay was confirmed? | |||
4. Define ammended report versus addendum report. | |||
5. Whose responsibility is it to sythesize the test results with other clinico-pathological information? | |||
6. How long are cytogenetic reports required to be kept by CAP? | |||
7, What is the recommended process to use test results if an assay is not yet validated for clinical use? | |||
8. Give three examples of "grey areas" which warrant discretion of professionals involved to use a non-validated test? | |||
9. What reference standard is available for gene nomenclature? | |||
10. Create a table of the most common gene rearrangements associated with heme and soft tissue diseases. | |||
11. What is a "DNA fingerprint" and what can it be used for? | |||
12. | |||