BIO 181 Unit 2: Genetics Study Guide

Day 1 (Chapter 11.1-2)

• Describe the purposes and differences between mitosis and meiosis
o Focus on diploid vs. haploid, cell numbers, basic division phases (Prophase, Prometaphase,
Metaphase, Anaphase, Telophase), and genetic diversity
• Be able to identify events of
o Prophase I
o Prometaphase I
o Metaphase I
o Anaphase I
o Telophase I
o Interkinesis
o Prophase II
o Prometaphase II
o Metaphase II
o Anaphase II
o Telophase II
o Cytokinesis
• Describe the structure and behavior of chromosomes
o Homologous chromosomes vs. sister chromatids
o Centromere vs. telomere
o Synapsis and Synaptonemal complex
o Crossing over and chiasmata
• Describe the basic function of the cell cycle phases
o Interphase (G1, S, G2) and M phase (mitosis/meiosis)
• Discuss how genetic diversity comes to be through meiosis
o During meiosis
§ Crossing over in prophase I
§ Random (independent) assortment of homologous chromosomes in metaphase I
o After meiosis
§ Random fertilization
• Describe the roles of meiosis, mitosis, and fertilization. Be able to recreate (a simple diagram) of the life
cycles of different organisms
o Animals (diploid dominant)
o Plants (alternation of generations)
o Fungi (haploid dominant)

Day 2 (Chapter 12.1-2)

• Describe the terms and process of genetic breeding as proposed by Gregor Mendel
o P, F1, F2, etc. generations
o True-breeding
o Testcross
o Dominant vs. recessive alleles
o Allele vs. gene
o Homozygous (dominant and recessive) vs. heterozygous
o Phenotype vs. genotype
• Know the difference between the product rule and the sum rule of probability
o Know when to use each one
 BIO 181 Unit 2: Genetics Study Guide
• Be able to complete a monohybrid (one gene) cross
• Describe the difference in inheritance patterns in simple (complete) dominance between a dominant trait
(A_) and a recessive trait (aa)
• Describe the pattern, results, and differences between the various types of inheritance and be able to do a
monohybrid cross for each type giving the correct predicted ratios (in fraction or percentage form) of
phenotypes and genotypes in the offspring
o Simple (complete) dominance
o Incomplete dominance
o Multiple alleles
o X-linked (sex-linked)

Day 3 (Chapter 12.3)

• Be able to complete a multi-gene (dihybrid, trihybrid, etc.) cross using one of two strategies:
o Forked-line method
o Combining results of monohybrid crosses
• Use the laws of probability to determine ratios (in fraction or percentage form) of multi-gene crosses
o Use sum rule when determining multiple, independent scenarios (hint: if you could use the word
“or” to indicate “either this, or that” as a result)
o Use product rule when determining multiple, dependent scenarios (hint: if you could use the
word “and” to indicate “this and that” as a result)
• Accurately and correctly list the genotype ratios and the phenotype ratios of genetic crosses
• Describe the pattern, results, and differences between the various types of inheritance and be able to do a
monohybrid cross for each type giving the correct predicted ratios (in fraction or percentage form) of
phenotypes and genotypes in the offspring
• Define Epistasis and be able to solve multi-gene crosses

Day 4 (Chapter 13.2) NOTE: omit section 13.1 of this chapter

• Describe how non-disjunction occurs, leading to aneuploidy (incorrect number of chromosomes)
o Describe how the results are different if non-disjunction occurs in Meiosis I vs. Meiosis II
• Be able to identify karyotypes of common aneuploidy offspring)
o Turner syndrome (2n-1; X)
o Klinefelter syndrome (2n+1, XXY)
• Describe how polyploidy, such as triploidy or tetraploidy, is different from single chromosome non-
disjunction types such as trisomy or monosomy
• Describe the different types of chromosomal structural mutations and their possible effects on
phenotypes
o Deletion
o Duplication
o Translocation
o Inversion (pericentric vs. paracentric)
• Describe the purpose and process of X inactivation, when it occurs, and its effect on the phenotypes of
females

Day 5 (Chapter 14.1-2)

• Identify and describe the various experiments and how they helped to understand that DNA is the
genetic material passed on from generation to generation
 BIO 181 Unit 2: Genetics Study Guide
o Griffith and transformation – S vs. R strain of bacterial pneumonia when injected into mice both
before and after heat treating S strain
o Hershey-Chase experiment and radiolabeled Sulfur vs. Phosphorus in bacteriophage virus that
infects bacteria
• Describe the molecular structure of DNA/RNA and their components
o Nucleotides
§ Nitrogenous base
• Pyrimidines (cytosine, thymine, uracil)
• Purines (adenine, guanine)
§ Sugar (deoxyribose vs. ribose)
• Be able to number the carbon atoms in this structure, paying special attention to
the 3’ and 5’ carbons
§ Phosphates
• Three phosphates as individual nucleotides (ATP, GTP, CTP, TTP, UTP), and
one phosphate when within the larger DNA/RNA structure
§ Chargaff’s rule of nucleotide matching
o Double helix structure
§ Identify the 3’ and 5’ ends of each strand; antiparallel
§ Major vs. minor grooves
§ Hydrogen bonding of AT and CG; 2 hydrogen bonds vs. 3 hydrogen bonds
§ Uniform width
§ Sugar-Phosphate backbone with nitrogen-containing bases in the center
§ Covalent bonding between nucleotides; 5’ – 3’ phosphodiester bond
o Coiling organization in eukaryotic chromosomes
§ DNA + histone protein à nucleosome à 30 nm fiber à 300 nm fiber looped domain à
compacted chromosome

Day 6 (Chapter 14.3-5)

• Explain the difference between the three hypothesized methods of DNA replication
o Conservative, semiconservative, dispersive
o Describe the experiment done by Meselson and Stahl using N-14/N-15 and how it demonstrated
that DNA replicates via the semiconservative method
• Describe the purpose of the origin of replication in DNA replication
• Identify the leading and lagging strands in DNA replication, how the lagging strand creates Okazaki
fragments, and how the two strands affect replication
• Describe the process of DNA replication including the names, functions, and requirements of the
applicable proteins and enzymes involved in the process
o Helicase
o Single stranded binding (SSB) proteins
o Topoisomerase
o Primase
o DNA Polymerase III
o DNA Polymerase I
o Ligase
• Function of DNA Polymerases I and III: Read template strand 3’ à 5’, synthesize new strand 5’ à 3’
 BIO 181 Unit 2: Genetics Study Guide
Day 7 (Chapter 14.6)
• Explain the difference between eukaryotes and prokaryotes in the process of DNA replication
o Origin of replication, telomerase function (see Table 14.2)
• Describe the function of telomerase in eukaryotes and the pros and cons to telomerase activity in cells
relating to longevity of the cell
• Describe the similarities, differences, functions, and processes of the three types of DNA repair,
including the enzymes involved in each type
o Proofreading (DNA polymerase)
o Mismatch repair
o Nucleotide excision repair
• Describe the types and effects of the different point mutations
o Substitution point mutations
§ Silent
§ Missense
§ Nonsense
§ Readthrough
o Addition or Deletion mutations
§ Frameshift

Day 8 (Chapter 15.1)

• Describe the relationship between genes, proteins, and biochemical pathways that require multiple
enzymes/proteins to function
• Identify the central dogma of molecular biology and the difference between eukaryotes and prokaryotes
o DNA à RNA à protein
o Location in the cell, mRNA processing
o Coupling of transcription and translation
• Identify the differences and similarities between the structures of RNA and DNA
• Be able to use a genetic code “decoder” to identify which nucleotide triplet (codon) is used for which
amino acid (see figure 15.4)
o Memorize the start codon AUG and that it codes for the amino acid Methionine

Day 9 (Chapter 15.2-3)

• Identify similarities and differences in transcription between prokaryotes and eukaryotes
• Know the difference between the template strand and the coding strand
• Describe prokaryotic transcription, including required elements
o Initiation
§ Promoter
• σ (sigma) subunit of prokaryotic RNA polymerase
• holoenzyme vs. core enzyme
§ Promoter region consensus sequences
• Initiation site +1
• TTGAC -35 region and TATAAT -10 region
o Elongation
§ RNA Polymerase on template strand
§ Unwinding, 5’ – 3’ synthesis, rewinding
o Termination
• Rho-dependent
 BIO 181 Unit 2: Genetics Study Guide
o Rho protein, stalling on run of guanine
• Rho-independent
o C-G Hairpin, stalling on run of adenine
• Describe eukaryotic transcription, including required elements
o Initiation
§ Promoter
• Transcription initiation complex
• Transcription factor proteins (TF II) and promoter region
§ Promoter region consensus sequences
• CAAT box, GC-rich box, octamer box, -25 to -35 TATAAA
o Elongation
§ RNA polymerase
• Unwinding, 5’ – 3’ synthesis, rewinding
• I makes most rRNAs, II makes pre mRNA, III makes 5S rRNA, tRNA, and
snRNA
o Termination
§ FACT in moving histones around during eukaryotic transcription

Day 10 (Chapter 15.4)

• Identify that transcription and translation occurs simultaneously in prokaryotes and genes can be
transcription by multiple polymerases at the same time (coupling)
• Describe the purpose and process of mRNA editing in eukaryotes
o RNA stability, ribosome recognition, export of RNA from nucleus
§ Addition of 5’ guanine cap
§ Addition of poly-A tail at 3’ end
o Intron splicing
§ Components of spliceosome complex (snRNP [protein + snRNA], intron, spliceosome
protein)
§ Function of snRNP and creation of lariat, process of splicing

Day 11 (Chapter 15.5)

• Describe the size and parts of the small and large subunits of a ribosome (prokaryotic and eukaryotic)
o A, P, and E site location and function
• Describe the process of charging tRNA (i.e., covalently bonding amino acid to tRNA)
o Aminoacyl tRNA synthetase, tRNA, and ATP energy
• Initiation
o mRNA, small ribosomal subunit, tRNA with methionine, initiation factors 2 and 3 (IF2, IF3),
GTP, large ribosomal subunit, Shine-Dalgarno sequence and Kozak rule
• Elongation
o Codon recognition
§ Incoming tRNA and Elongation Factor, A site, GTP
o Peptide bond formation
§ rRNA/peptidyl transferase, P site, amino acids, dehydration synthesis
o Translocation
§ tRNA shifting with Elongation Factor, GTP, E site
• Termination
o Stop codon, protein release factors (RF), A site, 2 GTP
BIO 181 Unit 2: Genetics Study Guide
• Describe the process and purpose of protein targeting and the required components
o signal recognition protein (SRP), signal sequence, ribosome, endoplasmic reticulum (rough ER)