Final Exam:

History of Genetics (Chapter 1):

o What is preformation
o What is epigenesis
o Frederick Gri9ith’s Transforming Principle & Avery-MacLeod-McCarty Experiments
§ What was done
§ What were the results
§ What do the results mean for society
o Who identified the structure of DNA
o What is the structure of DNA
o What did Francis Crick propose as the Central Dogma of Molecular Bio
o Di9erences between DNA and RNA
o Basics of transcription and translation
§ What comes in and what goes out
§ Where does it happen
o What are proteins
o Explain the function and purpose of restriction enzymes
o What happens in DNA cloning
o Define a vector
o Define biotechnology
o Provide examples of uses for transgenic plants and animals
o Name and define the genetic approaches used in biotechnology
o What are the features of an ideal model organism

Mitosis & Meiosis (Chapter 2):

o What is the purpose of mitosis
o Understand when something is a chromosome, a chromatid, or chromatin
o Know what a histone and nucleosome are
o What is a homologous chromosome
o Explain allele and loci
o What is a chromosome
o Be able to identify the parts of a chromosome
o Di9erentiate between sister chromatids and homologous chromosomes
o What are somatic and germ cells
o Understand diploid vs. haploid
o What is a karyogram and why are they used
o Describe parts of interphase including what occurs in each phase
§ G1, S phase, G2, G0
§ Know when DNA replication is occurring during cell cycle
o What happens in each phase of mitosis
o Di9erences between mitosis in plants and animals
o Describe the cell cycle checkpoints
o What is the protein that checks for DNA damage in the cell cycle
 § What happens if this protein is mutated
o What is the purpose of meiosis and what are the end products
o Know the phases of Meiosis and what occurs in each phase
§ What is the structure holding tetrads together
o Explain synapsis and crossing over
o What are the di9erences between mitosis and meiosis
o What are the di9erences between meiosis I and meiosis II
o What is nondisjunction vs disjunction
o How does nondisjunction in Meiosis I and Meiosis II impact the cells at the end of
meiosis
o What is a polar body and why are they made

Mendelian Genetics (Chapter 3):

o Why did Mendel use pea plants
o Understand how to do a monohybrid cross
o Know the phenotypic and genotypic ratios for monohybrid and dihybrid crosses
o Know the di9erence between phenotype and genotype (heterozygous and
homozygous)
o Be able to identify the phenotype, genotype, phenotypic, and genotypic ratio from a
Punnett square
o What is a reciprocal cross
o What is the purpose of a reciprocal cross
o What is a chi-square goodness of fit test used for?
o What is a null hypothesis?
o What is a pedigree and when do we use them?
o Know how to read and interpret a pedigree
o Determine whether a pedigree represents an autosomal dominant vs autosomal
recessive trait
§ Identify the genotype of individuals based on a pedigree

Modifications of Mendelian Genetics (Ch.4):

• Explain loss of function, gain of function, and neutral mutations
• Recognize nonmendelian allele nomenclature (ex: R1 R2 or LM LN)
• Explain incomplete dominance
o Perform a cross of an incomplete dominant trait and know the phenotypic
and genotypic ratios
• Explain codominance
o Perform a cross of a codominant trait and know the phenotypic and
genotypic ratios
• Understand X-linkage and recognize it over an autosomal trait
• X-linked dominant vs. X-linked recessive
o Identify each on a pedigree
o Identify genotypes based on pedigree
 o Recognize key characteristics of inheritance
o Perform Punnett squares
• Understand the inheritance of ABO blood types
o Be able to perform crosses and predict genotypes
• What are polygenic traits
• Describe what a lethal allele is
• What is Epistasis
• Understand the Bombay Phenotype
• Define pleiotropy and be able to recognize an example if described
• Di9erentiate between sex-limited and sex-influenced inheritance
• Be able to identify and apply the ideas of penetrance and expressivity
• Understand the position e9ect
• How does genetic anticipation impact disease presentation
• Describe mitochondrial disease inheritance
• Describe Y-linked inheritance

Sex Determination, DiDerentiation, and Chromosomes (Ch. 5):

• Describe the three types of genotypic sex determination with examples
• Understand temperature dependent sex determination with examples
• Explain sequential hermaphrodism with examples
• Characterize di9erences between the sex chromosomes
• Explain di9erences between euchromatin and heterochromatin
• Know the structure of the X and Y chromosomes
§ PAR regions
§ MSY region
§ Amount of euchromatin and heterochromatin
§ SRY region
§ # of genes
• How does the body compensate for some individuals having more X chromosomes
• Know what Barr bodies are and how they’re identified
• If additional X chromosomes are inactive, why are there sex di9erences
• Explain the Lyon Hypothesis à Why are calicos typically female
o Secondary and primary sex characteristics
o Understand mosaicism and how it occurs
o Know di9erent intersex and sex chromosomal conditions
Disorder Karyotype Cause of Infertile? Internal Sex External Sex
Name disorder (if not characteristics Characteristics
chromosomal)

Congenital
Adrenal
Hyperplasia
Androgen
Insensitivity
Syndrome
Swyer
Syndrome
Turner
Syndrome
Klinefelter
Syndrome
Jacob’s
Syndrome
Triplo-X
Tetra-X
Penta-X

Chromosomal Mutations (Ch. 6):

o Be able to read and write karyotypes
o Know the survivable human monosomy
o Know the survivable human trisomies
o Why are so few trisomies and monosomies survivable
o Explain how the extra 21st chromosome is inherited in down syndrome
o Why is maternal age a factor?
o What is eugenics
o What are the di9erences between public and private eugenics and positive and
negative eugenics
o Know the 4 types of chromosomal mutations
o Describe types of deletions
o What is a compensation loop
o Know what Cri du Chat Syndrome is and its karyotype
o What are duplications and how do they arise
o Describe the three purposes of duplications
o What are inversions, know pericentric and paracentric
o How do inversions impact gamete formation
o Explain Robertsonian translocation
o What are fragile sites
DNA Structure and Analysis (Ch. 9):
o Explain the Hershey & Chase experiment
o Know the 3 components of DNA
o Be able to identify the carbons where phosphate groups are attached and where new
nucleotides are linked
o Explain how DNA is read
o What are Charga9’s rules and how were they determined
o Explain how DNA is antiparallel and basic structure of DNA
o Know DNA Techniques
o FISH
o Gel electrophoresis
o PCR

DNA Replication (Ch. 10):

o Explain models of DNA replication
o In-depth understanding of the Meselson Stahl experiment
o Conclusion of their experiment
o What is the goal of DNA replication
o What is an origin of replication and how many exist in bacteria and eukaryotes
o Define replication fork and know direction of replication
o How does DNA replication begins in bacteria
o Know the proteins and enzymes involved in bacterial DNA replication and what
functions they perform
o Understand how the leading and lagging strands are synthesized
o What is the purpose of exonuclease activity during DNA replication
o What are the di9erences between DNA replication in Eukaryotes and Prokaryotes
o Be able to explain the details of these di9erences in eukaryotes
o Explain the purpose of telomeres and their impact on aging and cancer

DNA Repair (Ch. 14):

• Define mutation
• Characterize mutation types: loss of function, gain of function, somatic, germline,
spontaneous, induced
• Identify intragenic and intergenic suppressor mutations
• Understand what a mutation rate is and the features of a mutation rate
• Know the human mutation rate
• Describe the di9erence between spontaneous and induced mutations
• Explain and identify spontaneous mutations including:
o strand slippage
o tautomeric shifts
o depurination
o deamination
o oxidative damage
 • Explain and identify induced mutations and mutagens including:
o Base analogs
o UV radiation
o Ionizing radiation
• Describe the di9erence between carcinogens and mutagens
• Describe DNA repair systems including the following information (if discussed):
DNA Repair When does this Explain the mechanism What type of
Mechanism occur? (I recommend drawing mutations
the process) corrected?
Proofreading
Mismatch
Repair
Post
replication
repair
Direct reversal
Base Excision
Repair
Nucleotide
Excision Repair
Homologous
Recombination
Repair
Non-
Homologous
Recombination
Repair

• Understand how repair machinery knows which strand is old and which is new
• Explain how Xeroderma Pigmentosum occurs and how it is related to NER
• Describe why non-homologous recombination repair is not an ideal mechanism for
DNA repair

Transcription and the Genetic Code (Ch. 12):

• Know these di9erent types of RNAs and their functions: mRNA, tRNA, rRNA, snRNA,
telomere RNA
• Describe the purpose and result of transcription
• Understand di9erences between RNA and DNA including base pairing rules
• Know function of RNA polymerase as well as the function of the sigma subunit of
RNA polymerase
• Characterize bacterial and eukaryotic promoters
• Know the steps of transcription initiation in bacteria
• Know the steps of transcription elongation in bacteria
 • Explain the two methods of transcription termination in bacteria
• List the di9erences between eukaryotic and prokaryotic transcription
• Explain the purpose and function of transcription factors
• Explain di9erences in eukaryotic and prokaryotic initiation
• Describe transcription termination in eukaryotes
• Know the post-transcriptional modifications involved in RNA processing
• Know the purpose for the 5’ cap and 3’ tail
• Define introns and exons
• Explain the purpose and benefits of having introns
• Explain the components involved and the function of the spliceosome
• Describe codons
• Explain the wobble hypothesis
• Know the start and stop codons and the amino acids they code for (if any)
• Know what an open reading frame is and how do we identify the correct reading
frame for each gene
• Identify silent mutations, missense mutations, nonsense mutations, and frameshift
mutations and know how they impact the resulting amino acid sequence of a
protein
• Di9erentiate between a conservative and nonconservative mutation

Translation (Ch. 13):

• Identify the RNAs involved in translation à mRNA, tRNA, rRNA
• Describe the function of ribosomal RNA
• Know the subunits of bacterial and eukaryotic rRNA monosomes
• Describe the function of tRNAs
• Describe the structure of tRNAs
• Understand why there are fewer tRNAs than codons
• Explain what an anticodon is
• Explain what causes tRNAs have loops
• Know the process of tRNA charging including the enzyme involved and the energy
source
• Describe the purpose of the three sites in the ribosome
• Identify the components required for initiation
• Know the amino acid which is first in a bacterial protein sequence
• Explain the initiation start sites of eukaryotes and prokaryotes
• Describe the steps of initiation, including the ribosomal site the first tRNA enters the
subunit
• Know which ribosomal subunit decodes codons and which makes peptide bonds
• Explain the steps of elongation, including the ribosomal sites the tRNA enters as the
process continues
• Explain translation termination
• Know where transcription and translation occur in bacteria
 • Explain the di9erences between eukaryotic and prokaryotic translation
• Describe the functions of the tail and cap in translation initiation in eukaryotes
• Know the benefits of closed loop translation

Recombinant DNA Technology (Ch. 17):

• Define restriction enzymes and discuss their purposes
• Identify sticky and blunt ended cuts and the number of DNA fragments
• Recognize components of a plasmid and know their purposes
• Explain bacterial transformation and know the two methods for transformations
• Describe genomic libraries and how they’re made
• Explain the purpose of cDNA libraries
• Know uses of cDNA libraries
• Describe the process of making a cDNA library
• Explain reverse transcription
• Explain the three steps of PCR and know the purpose
• Describe how qRT-PCR is used
• Explain gel electrophoresis for DNA and proteins
• Understand how sanger sequencing works, how it is used, and the necessary
components
• Explain the benefits of using next generation sequencing over sanger sequencing
• Explain RNA sequencing and its uses
• Describe gene knockouts and gene targeting
• Understand CRISPR gene editing, its uses, and ethical concerns

Population Genetics and Evolution (Ch. 21):

• Define evolution & natural selection
• Define population, gene pool, and genetic variation
• Define Hardy-Weinberg
• Describe what is required of an ideal Hardy Weinberg population
• Explain an allele frequency
• Know the Hardy Weinberg Equation and what information can you get from it
• Explain what it means if a gene is not in Hardy-Weinberg
• Define genetic drift
• Identify the founder e9ect and genetic bottlenecks
• Di9erentiate between positive and negative assortative mating
• Explain how inbreeding impacts a population
• Define molecular evolution
• Explain the neutral theory of molecular evolution
• Know how natural selection deals with favorable and detrimental mutations
• Define fitness
• Recognize the three types of selection: directional, stabilizing, and disruptive
o Know the impact of each type of selection