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BIO340: Genetics Exam 3 – Chapters 11 - 13 GENETICS Student’s Name Institutional Affiliation Course Instructor’s Name Date
BIO340: Genetics Exam 3 – Chapters 11 - 13 Your assignment should be formatted as usual and will not be graded based on the number of pages submitted but the quality and thoughtfulness of your answer. While you can discuss how to approach a question on the exam with your classmates or look for information to help with a problem, this is not a group exam. Identical answers, mainly where independent decision making is required, will be considered plagiarism. 1. Chapter 11: Follow the instructions and answer the questions associated with page 215, "Exploring Genomics: Database of Genomic Variants." a) on what chromosome (S) did you find CNV (s) containing DEF genes Chr 8: 6, 841, 698.. 6, 844, 122 examples: chr7: 71890181.. 72690180, CFTR, AC108171.3, nsv529033 b) what did you learn about the function of the DEF gene? What do DEF proteins do? I understood how they act against microbes, fungi, bacteria, and viruses. To be successful in their role, they significantly bind to those microbes, fungi, etc., and in turn, these membranes permeability is increased. The proteins increase osmotic pressure in the membranes of bacteria’s which causes their rupture. C) variations in DEF genotype and DEF gene expression in humans have been implicated in several different human disease conditions. Give an example of the kinds of disorders affected by variations in DEF genotype Williams- Beuren syndrome, Infantile spasms, DiGeorge syndrome, Potocki-Lupski syndrome, Smith – Magennis syndrome.
BIO340: Genetics Exam 3 – Chapters 11 - 13 2. Chapter 12: Please answer the best of your ability, question 15 from the Chapter 12 end of Chapter problems. 15. shown below is a theoretical viral mRNA sequence 5’ - AUGCAUACCUAUGAGACCCUUGGA-3’ a) Assuming that it could arise from overlapping genes, how many different polypeptide sequences can be produced Eight polypeptide sequence MET – HIS-THR-TYR-GLU-THR-LEU-GLY b) A base -substitution mutation that altered the sequence in part (a) eliminated the synthesis of all, but one polypeptide determine why it was altered 5’ - AUGCAUACCUAUGUGACCCUUGGA-3’ MET – HIS-THR-TYR-VAL-THR-LEU-GLY It is known that the substitution of a GLU to VAL is associated with sickle cell anaemia disorder. Thus, the substitution occurred to develop sickle cell anaemia disorder since the substitution of valine for glutamic acid causes sickle cell anaemia. 3. Chapter 12 : (a) Given the following nucleotide sequence, identify the protein sequence produced, assuming that the coding sequence starts with the first nucleotide: 5’ – AUGGACCCUUUGCGGCCCACAGGGUGA-3’ MET-ASP-PRO-CPU-ARG-PRO-THR-GLY-THR-GLY-TRP
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BIO340: Genetics Exam 3 – Chapters 11 - 13 (b ) Propose a change in a sequence that will result in a stop codon produced at the 4 th amino acid sequence (single nucleotide change). At the fourth position, we change it with a U to stop codon. 5’ – AUGUGACCUUUGCGGCCCACAGGGUGA-3’ MET-TRP-PRO-CPU-ARG-PRO-THR-GLY-THR-GLY-TRP (c) Propose a sequence change that will result in a HIS nucleotide at the 6 th amino acid in the sequence (single nucleotide change). 5’ – AUGCACCUUUGCGGCCCACAGGGUGA-3’ to get a HIS, G is changed for C MET-HIS-PRO-CPU-ARG-PRO-THR-GLY-THR-GLY-TRP 4. Chapter 13: Based on two components, the Genetic Code (pg. 255, table 12.7) AND the chemical properties of the amino acids (pg. 255, Figure 13.14): (a) how many single nucleotide substitutions would it take to swap the two amino acids? Four single nucleotide substitutions (b) how different (chemically) are the amino acids? (Draw the two amino acid side-chains on your assignment to aid in your discussion) Glycine has the chemical formula of NH2-CH2-COOH. It has only a single hydrogen atom on its side chain. Simultaneously, alanine, an alpha-amino acid, has the formula C3H7NO2, and instead of single hydrogen as a side chain, it has a methyl group as its side chain. Furthermore, it is one of the nonpolar amino .acids
BIO340: Genetics Exam 3 – Chapters 11 - 13 (c) would you expect this mutation to likely be neutral, positive, or negative for the function of the final protein and why? I. Met (AUG) Gly (GGA) it will be neutral because the final protein Gly is a hydrophilic ii. Trp (UGG) Glu (GAG) it will be negative because the Glu protein is acidic; hence negative iii. Phe (UUU) Arg (CGU) it will be positive because the Arg protein is basic 5. Chapter 13: Please read and research the topic on page 258, "Case Study: Crippled ribosomes", such that you can provide thoughtful and considered responses to the questions. The ribosome is that molecular structure that assumes the shape of a sphere located in the cytoplasm, and it contains both RNA and proteins. Ribosome plays the role of protein synthesis. Bone marrow malfunction is identified as an effect of crippled ribosomes Diamond – Blackfan anaemia, which is extensively recognised as a dominant, rare disorder of the genes. Apart from bone marrow malfunction, crippled genes are associated with defects in birth and certain cancers. Studies have shown that infants who have crippled genes (DBA) will have in their first-year anaemia, have red blood cell production less, and have high chances of developing bone cancer or even leukaemia. References
BIO340: Genetics Exam 3 – Chapters 11 - 13 http://dgv.tcag.ca/gb2/gbrowse/dgv2_hg18/?name=id:746667;dbid=studies_v104:database https://academic.oup.com/hmg/article/18/R1/R1/2901109 https://www.livestrong.com/article/437114-the-substitution-of-valine-for-glutamic-acid/
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