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BIO 290: Genetics
Exam 2 Review
Directions: Listed below, by chapter, you’ll find the big ideas and key terms from the second half of our
quarter. These concepts and terms will make up the majority of exam 2. Note that your quizzes, homework,
pre-class assignments, and in-class worksheets again make excellent exam review materials.
Chapter 7: DNA Structure and Replication
Big Concepts/Ideas
A. History of Discovery (Griffith, Avery, Hershey, Chargaff)
B. Similarities and Differences: Prokaryotic and Eukaryotic Replication
C. Role of telomeres, telomerase
Chapter 8: RNA Transcription and Processing
Terminology: alternative splicing, carboxyl tail domain, cosuppression, functional RNA, gene silencing,
microRNA, poly(A) tail, intron, exon, promoter, RNA interference, small interfering RNA, small nuclear
RNA, microRNA, upstream, downstream, transgene, transgene silencing, spliceosome, ribozyme,
hairpin loop, small nuclear ribonucleoproteins
Big Concepts/Ideas
A. Properties of RNA
B. Classes of RNA
C. Pulse-Chase experiment
D. Understand the process of transcription. Compare the process in prokaryotes and eukaryotes.
E. What types of cotranscriptional processing occur in eukaryotic cells?
F. Understand the role of functional RNAs.
G. Understand the mechanism of action of the RNAi pathway, including the roles of RISC and
Dicer. How does this pathway lead to gene silencing?
Chapter 12: Regulation of Gene Expression in Eukaryotes
Terminology: promoter proximal elements, enhancers, enhancesomes, methylation, acetylation,
heterochromatin, euchromatin, Barr bodies, reporter genes, CpG Islands, enhancer blocking
insulators, nucleosome
Big Concepts/Ideas
A. Differences in role of gene regulation in prokaryotes and eukaryotes
B. Lessons from the structure and function of the Gal4 protein; role of yeast in understanding gene
Regulation.
C. Role of chromatin remodeling, including function of HAT’s and HDAT’s,
D. Mechanism and predicted inheritance patterns of imprinting
E. Mechanism and importance of dosage compensation
Chapter 14: Genomes and Genomics
Terminology: contig, whole genome sequenceing (WGS), pair-end read, cDNA, pseudogenes,
phylogeny, homolog, ortholog, paralog, transcriptome, proteome, interactome, microarray, twohybrid test, ChIP, site-directed mutagenesis, phenocopies.
Big Concepts/Ideas
A. Understand the steps in creating a map of the human genome
B. Understand the differences in the two methods used to sequence the human genome, whole
genome shotgun and ordered clone sequencing.
C. How can we identify gene regions that code for proteins in the DNA?
D. What is the general structure of the human genome?
E. Understand DNA microarrays and their function in studying the transcriptome.
F. Understand the ChIP assay and two-hybrid test. How does each facilitate study of the
interactome?
G. Review reverse genetics by random mutagenesis, targeted mutagenesis, and phenocopying.
How can RNAi be used to study the function of a particular gene?
H. New Ideas for Microarray and Sequencing Applications (Guest Speaker)
Chapter 16: Mutation, Repair, and Recombination
Terminology: apoptosis, apurininc site, base analog, base-excision repair, double strand break,
frameshift mutation, indel mutation, intercalating agent, mismatch repair, missense mutation,
nonconservative substitution, conservative substitution, nonsense mutation, oncogene, point
mutation, proto-oncogene, replica plating, spontaneous mutation, synonymous mutation, transition,
transversion, trinucleotide repeat, tumor-suppressor gene
Big Concepts/Ideas
A. Understand the terminology to describe the different types of mutations.
B. Understand the consequences of mutations at the level of mRNA and protein.
C. The keys ideas from the “fluctuation” test by Luria and Delbruck and the replica plating
experiment.
D. Know the causes of spontaneous mutations.
E. Understand the mechanism of expansion of trinucleotide repeats. How can trinucleotide
repeats lead to disease? How does the location of the trinucleotide repeats of Fragile-X
syndrome differ from the location of repeats found in Huntington disease?
F. What are some ways to induce mutations?
G. Review the Ames test.
H. Review the biological repair mechanisms of mutations: direct reversal, base-excision repair,
nucleotide-excision repair, and mismatch repair.
I. Understand how methylation of DNA can generate mutational “hot spots”
J. Understand how Xeroderma pigmentosum and Cockayne Syndrome are the result of
mutations in the same repair pathway.
K. Know the different types of mutations associated with cancer, such as oncogene mutations
and mutations in tumor suppressor genes.
Chapter 17: Changes in Chromosomes
Terminology: aneuploid, autopolyploid, allopolyploid, euploid, monoploid,polyploidy, translocation,
inversion, duplication, deletion, nondisjunction, gene balance, gene-dosage effect
Big Concepts/Ideas
A. Understand the changes that can occur in chromosomes, such as translocation, inversion,
deletion, duplication, and loss/gain of genetic material.
B. Review the terms euploidy and aneuploidy and be able to recognize examples of each.
C. Understand the correlation between chromosome sets and size of an organism
D. What is the general cause of aneuploidy?
E. In humans, what can result when there are an abnormal number of sex chromosomes? Of
autosomes?
F. Understand the mechanism involved in the inheritance of Down syndrome.
G. Understand how chromosome translocations can lead to disease such as cancer.
Other:
Be prepared to provide an example or two from our journal club sessions that illustrate key
concepts or ideas from our content this quarter. (For example, we might ask you to explain an
application of RNAi from one of your colleague’s talks.)