Biology 3201 Study Guide: Molecular Genetics
Nucleus Sense strand Cystic fibrosis
Nucleolus Antisense strand Phenylketonuria (PKU)
Chromosome Codon Tay-Sachs Diseases
Chromatin Anticodon Klinefelter’s Syndrome
Genes Initiation codon Turner’s Syndrome
DNA Termination codon Jacob’s Syndrome (XYY)
RNA Homeobox Down’s Syndrome
Purines Hox genes Triple X Syndrome
Pyrimidines Oncogenes Metafemales
Adenine Mutation Pedigree
Thymine Mutagen GMO’s
Cytosine Somatic Mutation GMF’s
Guanine Germ Mutation Amniocentesis
Uracil Chromosomal Mutation Fetoscopy
Nitrogenous base Gene Mutation Chorionic villi sampling (CVS)
Phosphate group Deletion Karyotyping
Deoxyribose Duplication DNA probe
Ribose Inversion Genetic markers
genome Translocation Linked marker
semi-conservative Nondisjunction Gene-specific marker
initiation Trisomy Cytogeneticist
elongation Monosomy Medical geneticist
termination Point Mutation Genetic engineer
proof reading Substitution Recombinant DNA
replication origin Silent Restriction enzymes
replication bubble Mis-sense Restriction endonucleases
DNA polymerase Nonsense Restriction site
Replication forks Frame-shift Mutation Restriction fragments
Helicases Base Insertion Staggered cut blunt cut
Primer Base Deletion Sticky ends
primase Jumping Genes DNA amplification
Okasaki fragments Barbara McClintock Bacterial Vectors
Leading strand Transposons Viral Vectors
Lagging strand Hemophilia Polymerase Chain
Telomeres Color blindness Reactions(PCR)
MRNA Muscular Dystrophy Gel Electrophoresis
TRNA Huntington’s Diseases DNA Sequencing
RRNA Progeria Therapeutic cloning
Transcription Sickle cell disease Reproductive cloning
Translation Familial hypercholesterolemia
RNA polymerase (FH)
1. Be able to describe how each of the following scientists contributed to our understanding of molecular genetics:
(i) Gregor Mendel
(ii) Walter Sutton and Theodor Boveri
(iii) P.A. Levine
(iv) Frederick Griffith
(v) Oswald Avery, Colin MacLeod and Maclyn McCarty
(vi) Erwin Chargaff
(vii) Rosalind Franklin and Maurice Wilkins
(viii) Alfred Hersey and Martha Chase
(ix) Francis Crick and James Watson
2. How did the research of P.A. Levine lead to the incorrect conclusion that the material of heredity was protein?
3. What is Chargaff’s Rule?
4. What is the structure of DNA?
5. What is the structure of RNA?
6. Explain how the ring structure of purines and the ring structure of pyrimidines determine complimentary base
7. What is meant when the DNA strands in a molecule are called antiparallel?
8. What are two condition that must be met during DNA replication?
9. Describe the three stages of DNA replication: initiation, elongation and termination
10. Explain why the replicated DNA is always shorter that the parent DNA strand.
11. What is the function of telomeres? What implications does this have for cell death? Cloning?
12. How does proof reading and correction work after DNA replication?
13. Why is accurate DNA replication important the continuance of life?
14. How DNA code for the production of proteins? (ie. How do four bases in DNA code for 20 different amino acids
found in proteins?)
15. Describe the two steps of protein synthesis: transcription and translation.
16. What is the role of the environment in gene expression? Be able to give examples.
17. What is the role of hormones in gene expression?
18. What are two causes of mutations?
19. What are some examples of mutagens?
20. Which type of mutation can be passed to offspring? Somatic or germ?
21. Which type of mutation is more detrimental ? Chromosomal or gene?
22. Distinguish between the different types of chromosomal mutations.
23. Distinguish between the types of gene mutations: Point and frame-shift. Which type is more detrimental?
24. Explain how transposons can be a source of genetic variation?
25. Be able to distinguish between the different types of genetic disorders: sex-linked, dominance, codominance,
incomplete dominance, recessive and chromosomal. Be able to provide examples.
26. Be able to identify the three main types of pedigrees: autosomal recessive, autosomal dominant and sex-linked.
27. Be able to describe examples of GMO’s or GMF’s.
28. Discuss major risks associated with GMO’s and GMF’s. Include:
(i) environmental threats
(ii) health effects
(iii) social and economic issues
29. Construct arguments to either support or oppose the use of GMO’s or GMF’s in society.
30. Describe four types of treatments for genetic disorders.
31. Describe the work of genetic counsellors.
32. Discuss the ethical issues of genetic engineering.
33. Discuss the ethical issues of genetic counselling.
34. Briefly describe the steps of genetic engineering.
35. Describe the function of restriction enzymes in creating recombinant DNA.
36. Explain how bacterial vectors and viral vectors are used to amplify DNA.
37. Describe PCR.
38. Describe how gel electrophoresis works to produce a DNA fingerprint.
39. What is the purpose of DNA sequencing and how does it work?
40. Describe the process of cloning Dolly the sheep.
41. Discuss ethical considerations of cloning.
42. What is the human genome project and why was the project conducted?
43. Summarize the major findings of the Human Genome Project.
44. What are some of the benefits of HGP research?
45. What are some of the risks associated with HGP research?
NOTE: Know the lab on Karyotyping
Know the Genetics Module