DRAFT+FinalKEY-11 - Name or ID number Bio D137 Human and...

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Name or ID number_______________________ pg 1 Bio D137 – Human and Eukaryotic Genetics Professor J. L Marsh Final Exam – Dec 8, 2011 NOTE: THIS ANSWER KEY AND POINT DISTRIBUTION WILL BE UPDATED AS THE GRADING PROCEEDS. THIS IS A QUICK DRAFT KEY FOR RIGHT AFTER THE FINAL This exam consists of 5 questions. 1. 20 pts. – ____________________ 2. 20 pts. - ____________________ 3. 20 pts. - ____________________ 4. 25 pts. - ____________________ 5. 15 pts. - ____________________ Please explain your logic in any answer presented and in a legible form. If you make assumptions – state them clearly. Please write your name on every page because the exam pages may be separated for the purpose of grading. Use the back of each page if you need scrap paper.
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Name or ID number_______________________ pg 2 [1] 20pts There are many steps required for a gene to be expressed into a functional protein. Mutations in different parts of a gene can produce a range of symptoms that can often confuse diagnosis. To better understand the molecular basis of phenotype, it is essential to understand the functional parts of a gene quite well. A] Draw the structure of a generalized eukaryotic gene that has three introns with the protein coding portion of the gene beginning in exon 2 and terminating in exon 4. Use boxes to denote exons and bridges to denote introns i.e.^ and designate all protein coding regions and distinguish them from non-coding regions. Draw the resulting mature mRNA. On each diagram, identify the names, locations, and sequences (where known) of ALL key elements e.g. start & end of translation, transcription, splicing etc. Write out and circle all strictly conserved sequences that demarcate functional sites and indicate their location/distance in the gene structure and label and demarcate all parts such as exons etc. (20 pts) THE KEY 5’ U TR 3’ U TR (AAA)n t ail cap AUG UAA UGA UAG methioni ne start codon translation stop Pts 1 each 3 exons, 2 introns, orf exon 1, orf exon 2, tata/promoter, trxn start, 5’utr, ATG, TAA/TAG/TGA, 3’ UTR, donor acceptor sites , 4 circles on splice sites, ATG, stop, polyA; 1 polyA AATAAA, cap, spliced mRNA, polyA tail, enhancer 1. TATA box/promoter @ -25bp 1 pt for TATA loc and 1pt for distance 2. Enhancers (location can vary) 3. Transcription start site 4. Denote extent & # of each exon (4 pts total) 5. 5’UTR 6. Translation start site - AUG initiator codon 0.5 for AUG & 0.5 for TLNS start 7. Intron splice donor site GT 8. Intron splice acceptor site AG
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Name or ID number_______________________ pg 3 9. Translation stop site UAA/UAG/UGA 2pts for all 3; 1 pts for one or two codons 10. 3’ UTR (all of it) 11. PolyA addition signal= AATAAA @ 14bp before end of mRNA 1pt -0.5 if wrong location 12. Location of polyA tail – as distinct from the poly A addition signal 1 pt MRNA CAP, 5’ & 3’ UTR, polyA and protein coding region 1 pt for cap,, 1 pt for polyA tail, 1 pt showing 5‚ and 3‚, 1 pt for protein coding region
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Name or ID number_______________________ pg 4 B] What kind of mutation in the non-protein-coding sequence of a gene could lead to a truncated and inactive protein? Identify the bases that would have to be modified and their location.
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