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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) |
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| == Short answer questions on genetics and molecular pathology. == | | = [[Short answer questions submitted by Tate]]= |
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| 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.
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| UNIT 1
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| {{hidden|1. List three differences between DNA and RNA.|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|2. What are the three stop codons?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|3. Where does transcription begin?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|4. List three enzymes necessary for transcription and their function. |<center>[[Microsatellite instability]]</center>}}
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| {{hidden|5. List and describe four post transcription modifications of RNA.|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|6. List three differences between somatic and germline mutations. |<center>[[Microsatellite instability]]</center>}}
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| {{hidden|7. What is the difference between a missense and a non-sense mutation?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|8. Define a frameshift mutation. |<center>[[Microsatellite instability]]</center>}}
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| {{hidden|9. Why are inversion mutations difficult to detect?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|10. Describe the potential sequelae of a translocation mutation. |<center>[[Microsatellite instability]]</center>}}
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| UNIT 2
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| {{hidden|1. Translate the following: c.1524_1527delCGTA.|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|2. List 5 features of SNPs.|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|3. Define a regulatory SNP and a synonymous SNP?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|4. What is the difference between a microstalellite and a minisattelite?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|5. Describe Hardy-Weinberg Equilibrium?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|6. What factors can disrupt the H-W equilibrium?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|7. What is linkage disequilibrium?|<center>[[Microsatellite instability]]</center>}}
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| UNIT 3
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| {{hidden|1. What are the three major steps of PCR?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|2. What is the hallmark of PCR?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|3. What factors affect the method of genotyping chosen?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|4. Define sensitivity, specificity, positive predictive value and negative predictive value. |<center>[[Microsatellite instability]]</center>}}
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| {{hidden|5. Define reproducibility and accuracy of an analytical test. |<center>[[Microsatellite instability]]</center>}}
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| {{hidden|6. Describe briefly Sanger sequencing.|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|7. Describe briefly how Taqman automated genotyping is used for allele detection. |<center>[[Microsatellite instability]]</center>}}
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| {{hidden|8. How are DNA microarrays used to identify drug disposition or responses?|<center>[[Microsatellite instability]]</center>}}
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| UNIT 4
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| {{hidden|1. Describe the procedure for submitting FFPE slides for KRAS for colorectal cancer.|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|2. Compare and contrast uniplex versus multiplex genotyping. |<center>[[Microsatellite instability]]</center>}}
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| {{hidden|3. Compare and contrast conventional vs massively parallel sequencing. |<center>[[Microsatellite instability]]</center>}}
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| {{hidden|4. What is multiplex ligation-dependent ligation (MLPA)?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|5. What is fragment analysis?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|6. Compare and contrast RT-PCR vs qRTPCR.|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|7. What is MSI?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|8. What is methylation analysis?|<center>[[Microsatellite instability]]</center>}}
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| UNIT 5
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| {{hidden|1. What are the four test features required to be documented by the CLIA?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|2. What are "in vitro diagnostics" vs "laboratory developed tests"?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|3. What does validation mean? |<center>[[Microsatellite instability]]</center>}}
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| {{hidden|4. What are the four performance characteristics that need to be verified for FDA cleared/approved tests?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|5. What are the six performance characteristics that need to be verified for FDA cleared LDTs or modified FDA cleared/approved tests?|<center>[[Microsatellite instability]]</center>}}
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| UNIT 6
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| {{hidden|1. List the components of a molecular pathology report.|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|2. Define analytical sensitivity and clinical sensitivity. |<center>[[Microsatellite instability]]</center>}}
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| {{hidden|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?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|4. Define ammended report versus addendum report.|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|5. Whose responsibility is it to sythesize the test results with other clinico-pathological information?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|6. How long are cytogenetic reports required to be kept by CAP?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|7, What is the recommended process to use test results if an assay is not yet validated for clinical use?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|8. Give three examples of "grey areas" which warrant discretion of professionals involved to use a non-validated test?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|9. What reference standard is available for gene nomenclature?|<center>[[Microsatellite instability]]</center>}}
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| {{hidden|10. Create a table of the most common gene rearrangements associated with heme and soft tissue diseases. |<center>[[Microsatellite instability]]</center>}}
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| {{hidden|11. What is a "DNA fingerprint" and what can it be used for?|<center>[[A method that examines multiple areas of short tandem repeats to identify paternity, mosaicism, chimerism, and identity in forensics cases]]</center>}}
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| Hi Michael, I've started, but mostly just with the questions for now, as I study I will keep working on it. Can you help me, maybe we can make additional discussion pages for each of my "study" exams,e.g. molecular, robbins chapters, cap protocols etc.
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