Quiz 5: Mutation - UST/BIOL3321 Genetics PDF

Summary

This document is a genetics quiz, likely a formative assessment, covering mutations, including fill-in-the-blank, matching, and application sections. It appears to test knowledge of different types of mutations and their effects.

Full Transcript

UST / BIOL3321: Genetics My Grade: ____________ / 100 Formative Assessment My Time: ___________ min Quiz 5: Mutation Fill in...

UST / BIOL3321: Genetics My Grade: ____________ / 100 Formative Assessment My Time: ___________ min Quiz 5: Mutation Fill in the blank (2 points each = 40) 1. Transition 2. Transversion 3. Indel 4. Frameshift mutation 5. Missense mutation 6. Non-conservative substitution 7. Neutral mutation 8. Silent mutation 9. Nonsense mutation 10. Gain of function mutation 11. Dominant-negative effect 12. Reverse genetics 13. Intragenic suppressor 14. Germline mutation 15. Genomic rearrangement 16. Copy number variant 17. Microdeletion 18. Translocation 19. Aneuploidy 20. Trisomy Matching (2 points each = 20): Indicate which of these produce loss of function (LOF) or gain of function (GOF). 1. LOF 2. LOF 3. GOF 4. GOF 5. LOF 6. GOF 7. LOF 8. LOF 9. GOF 10. GOF 1 Application (20 points) (a) (5 pts) Transcribed mRNA sequence: 5¢ AUG-GGA-GCU-CGU-UGU-AUU-UGA 3¢ Translated protein sequence: Met-Gly-Ala-Arg-Cys-Ile-* (b) (5 pts) Mutation 1: 5¢ AUG-GGA-GCU-CGU-UGU-AUU-UGA 3¢ Met-Gly-Leu-Arg-Cys-Ile-* Transversion leads to a missense mutation. (c) (5 pts) Mutation 2: 5¢ AUG-GGA-GCU-CGU-UGU-AUU-UGA 3¢ Met-Gly-Ala-Arg-* Transversion leads to a non-sense mutation. (d) (5 pts) Mutation 3: 5¢ AUG-GGA-GCU-CGU-AGU-UGU-AUU-UGA 3¢ Met-Gly-Leu-Arg-Ser-Cys-Ile-* Insertion leads to an in-frame mutation. 2

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