BSCS Unit 3, Chapter 15 Advances in Molecular Genetics 1. What is the Human Genome Project? When did it begin and when was it completed? By whom? Why is it called the “moon shot?” 2. What did it establish? 3. What is a genome? What genomes have been sequenced? 4. How many nitrogen base pairs make up the human genome? How many genes does the human genome have? (HINT: go to http://www.ornl.gov/sci/techresources/Human_Genome/faq/c ompgen.shtml 5. The diagram below shows a typical diagrammatic view of a chromosome. What do the banded sections represent? 6. In the classroom is a poster depicting the diseases associated with a specific chromosome out of the 24 different chromosomes (1-22 autosomes and an X and Y chromosome). Which chromosome has the most diseases associated with it? 7. What is the srY gene? What is its function in the human body? In what gender offspring would you find this? Which are of the chromosome is it on? 8. What was the first bacterial genome to be sequenced? The first eukaryote? 9. Why would scientists choose prokaryotes to sequence their genome? 10. Which organism (genus and species name) has contributed to much of our knowledge of cell biology? 11. What was the first multicellular organism (genus and species name) sequenced? 12. Homo sapiens has between 75-100 trillion cells. The organism in question #11 has how many? Why does this make it a unique organism to study? 13. What is functional genomics? How does it contribute to our understanding our own genome? 14. Read the Focus On section on p. 396. How has automation sped up our ability to sequence DNA? 15. What is the role of the cytochrome P450 gene? 16. Do genes act alone? Explain. 17. What is a microarray? 18. The picture below is a transgenic organism. What technology achieved this? 19. The diagram below shows the steps of recombinant DNA necessary for genetic engineering. Why are bacterial plasmids used for this purpose? 20. Explain the use of restriction enzymes. 21. What is polymerase chain reaction (PCR)? 22. What are single nucleotide polymorphisms (SNP’s)? 23. What is RFLP analysis? 24. In what areas of the industrial sector and society are these used? 25. What are mutations? What forms do they take? 26. In the diagram below notice the point mutations. What effect would this have on the organism if it occurred in somatic cells? What effect would this have on the offspring if it occurred in sex cells? 26. Differentiate between a missense mutation and nonsense mutation. Give examples of each (not the ones from the book) 27. What is a frameshift mutation? 28. What test is given to every child born in the US at birth? Why? What is the nature of the disorder being tested? 29.Describe three different chromosome arrangements and in the space below, draw representative samples of them. 30. What is the biggest danger in somatic cell mutations? How can several different mutations cause the same genetic disease? 31. What is the process called when extra copies of specific genes are made? 32. What is the germ cell line? How is this useful to gene therapy? 33. The following diagram shows a simplistic view of gene therapy. What risks are there when inserting copies of normal human gene into bacteria to form clones or in viruses to be introduced into human cells? 34. Give a concise definition of a gene.