Study Guide for Final Exam in Human Biology - Genetics

1. Correctly order diagrams of the stages of meiosis.
2. Name the two men responsible for determining the structure of DNA.
3. What were the contributions of Franklin, Wilkins, Chargaff?
4. What is complementary base pairing and how does it work?
#5,6,7 refer to the Polytene Chromosome Squash Lab
5.  What species was used for the polytene chromosome squash?
6. What stage of development of this organism was used?
7. What specific part of this species was used?
8. What is an amniocentesis and how is it done?
9. What is nondisjunction?  How (and during what process) does it occur?
10. What types of abnormalities can be determined by amniocentesis?
11. What is a karyotype?  What is the normal karyotype of humans?
12. Describe each of the following disorders caused by chromosomal mutations: Turner's   Syndrome, Klinefelter's Syndrome, Down's Syndrome.
13. Describe replication.  Where does the molecule separate?
14. What is  a nucleotide?
15. Where is the information (code) in the DNA molecule?
16. What is transcription?  What molecule is made?  What is a codon?
17. What is translation?  What RNA molecule brings the amino acid to the ribosome?   What is an anticodon?
18. How is RNA different from DNA?  (3 things)
19. In what organisms does this hereditary system work?
20. How many bases are in a codon? Anticodon?
21. How many amino acids are used in protein synthesis?
22. How many kinds of proteins are there?  (1's, 10's, 100's, 1000's?)
23. Where does protein synthesis occur?
24. What RNA base replaces thymine?
25. Who is responsible for describing the basic laws of heredity?
26. What is a dominant gene?  A recessive gene?  An allele?
27. What is a genotype?  A phenotype?
28. If G = green and g = yellow, what color is GG?  Gg?  gg?
29. Which genotypes in # 28 are homozygous?  Heterozygous?
30. What is a Punnet square?  What information can you determine using a Punnet  Square? What information must you have to use a Punnet Square?
32. What is a mutation?
33. What is a sex-linked disease?  How many genes must a female have in order to have a   sex-linked disease?  A male?
34. What is the genetic cause of each of the following disorders?  (sex-linked, autosomal   recessive, autosomal dominant) : ALD (Lorenzo's disease), Huntington's, Tay Sachs,   Cystic Fibrosis, Muscular Dystrophy, Hemophilia, Marfan's.
35. List the symptoms and any other important characteristics of the disorders in # 34.
36. Who is at risk for having children with a genetic disorder?
37. What is gel electrophoresis?  What materials and equipment are needed for this  technique?
38. Why does separation occur in the agarose gel?  What types of molecules travel the  farthest distance?  Shortest?
39. What is the charge on DNA?  Toward what pole is it attracted?
40. What chemicals are used to cut up DNA?  Give examples.
41. Determine where a specific restriction enzyme will cut a piece of DNA.  (When given   the cut sites for the restriction enzyme / endonuclease.)
42. How do restriction enzymes work?  Why is this important when working with DNA   from different sources?  What is recombinant DNA?
43. What is DNA fingerprinting?  A DNA profile?  How can these be used to determine   paternity or criminal identities?
44. What is the PCR reaction?  Why is this important in DNA fingerprinting?  How was   this important in identifying the remains of Jesse James?
46. What is mitochondrial DNA?  How was this used to identify the remains of Jesse  James?
46. What is the "ori" on the plasmid and why is it important?
47. Who was the first director of the Human Genome Project (HGP)?
48. What are the major objectives of the HGP?
49. What are some of the moral / ethical implications of the HGP?
# 50 - 59 Refer to the Bacterial Transformation Lab (We just talked about it; did not DO it.)
50. What is a plasmid?
51. What is transformation?  What was Griffith's contribution?
52. What is a microliter (ml)?  A micropipettor?
53. What are competent cells?
55. How did we pick out bacteria that had been transformed?
57. What is an antibiotic?  What kind of organism does it work on?
58. If a bacteria is resistant to an antibiotic, can the bacteria grow in the presence of that   antibiotic?
59. Briefly describe the use of a micropipettor and a microcentrifuge.
 
 
 

 
 

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