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Essential Biology 4.1 Chromosomes, Genes, Alleles, Mutations Due Date: Student Name: Candidate Number: 002171- Blog resource: http://tinyurl.com/5v54w9z Click4Biology: http://click4biology.info/c4b/4/gene4.htm Cite all sources using the CSE method (or ISO 690 Numerical in Word. Highlight all objective 1 command terms in yellow and complete these before class. Highlight all objective 2 and 3 command terms in green – these will be part of the discussions in class. After class, go back and review them. Complete the self-assessment rubric before submitting to Moodle. Avoid printing this if possible. 1. Define the following: Chromosome Gene Allele Gene locus Genome Chromatid Mutation Haploid Diploid 2. State the components of a chromosome. DNA & 3. State the number of chromosomes present in a single human diploid cell. 4. Identify structures a. and b. on the line drawing of a chromosome in prophase shown to the right. a. b. 5. Give two examples of genes and some of their possible alleles. Gene Eye colour Possible alleles Blue, brown, green, hazel 6. List factors that increase the chance of a genetic mutation. Stephen Taylor Bandung International School http://sciencevideos.wordpress.com Essential Biology 4.1 Chromosomes, Genes, Alleles, Mutations Due Date: Student Name: Candidate Number: 002171- 7. mRNA amino acid 8. Distinguish between the two DNA strands above in terms of: a. DNA base sequence. b. Amino acid sequence in the resulting polypeptide. 9. Compare the following types of base-substitution mutation. Silent mutation Number of bases substituted Mis-sense mutation 1 Stop codon produced early – polypeptide shortened Effect on polypeptide Example illness Stephen Taylor Nonsense mutation Sickle cell disease Bandung International School http://sciencevideos.wordpress.com Essential Biology 4.1 Chromosomes, Genes, Alleles, Mutations Due Date: Student Name: Candidate Number: 002171- 10. Describe the effects of sickle cell disease on sufferers in terms of: a. Hemoglobin production b. Symptoms and mortality 11. Identify parts of the world where a single sickle cell (Hbs) allele could be beneficial Explain your answer 12. Define evolution. 13. Outline how mutations lead to evolution by natural selection. 14. Outline how the spread of the sickle cell gene is an example of natural selection in action. 15. How could this be an example of a correlation which has a strong element of causality? Stephen Taylor Bandung International School http://sciencevideos.wordpress.com Essential Biology 4.1 Chromosomes, Genes, Alleles, Mutations Due Date: Student Name: Candidate Number: 002171- In-class activity: Using gene databases (ICT Databases) 1. Using the NCBI gene database at http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene , identify the gene locus of the HBB (hemoglobin) gene. 2. Using the same database, look for the gene related to the illness PKU (phenylketonuria) a. What is the gene name? b. What is the gene locus of this gene? c. Which enzyme is encoded by this gene? d. What is the consequence of a base-substitution (mis-sense) mutation of this gene? e. How is PKU diagnosed and why must it be diagnosed as early as possible? 3. Stem cells link: Read this article: http://notexactlyrocketscience.wordpress.com/2007/12/08/sickle-cell-micecured-by-stem-cells-reprogrammed-from-their-own-tails/ a. What is an IPS stem cell? b. Outline the use of this technology in treating the mice with sickle cell disease. Stephen Taylor Bandung International School http://sciencevideos.wordpress.com Essential Biology 4.1 Chromosomes, Genes, Alleles, Mutations Due Date: Student Name: Candidate Number: 002171- Works Cited 1. Allott, Andrew. IB Study Guide: Biology for the IB Diploma. s.l. : Oxford University Press, 2007. 978-019-915143-1. 2. Mindorff, D and Allott, A. Biology Course Companion. Oxford : Oxford University Press, 2007. 978099151240. 3. Clegg, CJ. Biology for the IB Diploma. London : Hodder Murray, 2007. 978-0340926529. 4. Campbell N., Reece J., Taylor M., Simon. E. Biology Concepts and Connections. San Fransisco : Pearson Benjamin Cummings, 2006. 0-8053-7160-5. 5. Taylor, Stephen. Science Video Resources. [Online] Wordpress, 2010. http://sciencevideos.wordpress.com. 6. Burrell, John. Click4Biology. [Online] 2010. http://click4biology.info/. 7. IBO. Biology Subject Guide. [Online] 2007. http://xmltwo.ibo.org/publications/migrated/productionapp2.ibo.org/publication/7/part/2/chapter/1.html. Self Assessment: Essential Biology Criterion Presentation & Organisation Academic Honesty Objective 1 understanding Objective 2 understanding Objective3 understanding Logic, notation, mathematical working Further research Assessment Complete (2) Partially complete (1) NA Complete and neat. All command terms highlighted, tables and diagrams well presented. Self Sources cited using the CSE (ISO 690 numerical) method, with Works Cited section complete and correct. All answers for the following command terms Most answers for the following command terms correct: correct: Define Draw Label List Measure State Most answers for the following command terms All answers for the following command terms correct: correct: Annotate Apply Calculate Describe Distinguish Estimate Identify Outline Most answers for the following command terms All answers for the following command terms correct: correct: Analyse Comment Compare Construct Deduce Derive Design Determine Discuss Evaluate Explain Predict Show Solve Sketch Suggest Answers are presented in a logical and concise manner. SI units used most times, with correct NA unit symbols and definitions of terms. All mathematical working shown. Evidence is apparent of research and reading beyond the textbook and presentations to find correct answers to challenging questions. If any NA questions are unanswered, this criterion scores zero. NA Total (max 10): Stephen Taylor Bandung International School http://sciencevideos.wordpress.com MrT