Biology 97 Extensive Study Guide

Created by several of your equally suffering peers!

(sorry the font is in times, I personally hate this font)

Disclaimer: This study guide, although created with the best of our ability (well I got lazy in the
end), may not be complete. Sorry

Crash Course: (Read it thoroughly and let it lead you!)

Genetics: The Study of inherited traits!
As we go through this ask yourself these questions:
o How do our genes store information?
o How our genes heritable?
o How do genes influence our phenotypes?
o How can we visually see the changes of our genes?
o How does genetics influence the development of genes?
DNA Replication, PCR, and Sequencing
Learning Objectives!
o DNA
Components of DNA and RNA
Connection between DNA structure features and DNA function
How are nucleotides polymerized (combined)?
Semi-Conservative Replication and why it is significant.
DNA Proof Reading and its consequences.
o PCR Polymerase Chain Reaction
What is the process of PCR?
How do physical parameters and components affect PCR? (Its speaking
more towards the process)
o Sequencing
What is Dideoxy Sequencing?
What is the difference between DNA replication, PCR, and Sequencing?
DNA Structure
o Its a double helix (doy).
Minor and Major Grooves
Why do these grooves form? (Think of the physics of its structure)
On which groove do you think Replication and Transcription would
occur?
o Antiparallel strands!
Can you explain why the 3 prime and 5 prime ends mean?
o Composed of Nucleotides?
What are its three components?
1. Tri-phosphate
2. Sugar (Deoxyribose)
3. Nitrogenous Base (Adenine, Guanine, Thymine, and Cytosine)
o Uracil instead of Thymine in RNA
Nitrogenous Bases
Pyrimidines (Single Ring)
 o Cytosine, Thymine, and Uracil
Purines (Double Ring; Purines are better than Pyrimidines and so
they got two rings )
o Guanine and Adenine
Pairs
o Adenine (A) and Thymine (T)
2 Hydrogen Bonds
Its (A) and Uracil (U) on RNA
o Guanine (G) and Cytosine (C)
3 Hydrogen Bonds
o Phosphate Back Bones
This is important for replication!
DNA Replication
o Semiconservative
Meselson-Stahl Experiment
The one with the nitrogen isotopes.
o Nucleotides can be Polymerized
Polymerization is always 5 to 3
o Specifics of Replication
DNA Polymerase III: Catalyzes the additions of appropriate nucleotides.
Phosphodiester Bonds
It also had a proofreading function to ensure that each nucleotide
base pair is correct.
Exonuclease comes into action when there is an error and deletes
the wrong nucleotide.
DNA Polymerase I
Removes the RNA primers.
RNA Polymerase
DNA Polymerase cant start from scratch so RNA polymerase,
which can attach to the template strand on its own, places RNA
primers in which DNA polymerase can attach to!
Origins of Replication: Where DNA duplication begins
Replication Bubbles
Replication is bidirectional (it goes both directions)
Prokaryotes generally have one while Eukaryotes have multiple
replication origins.
Other key terms
Okazaki Fragments: Lagging strands of DNA
o Why do lagging strands exist?
I NEED TO INCLUDE THE OTHER PARTS FOR DNA
REPLICATION (LIGASE, ETC)
o PCR
Ingredients:
A specific primer
A special polymerase
 With each cycle, the amount of DNA is doubled.
Steps:
1. Denaturation of DNA by heating (95C)
o All the DNA separates into single strands.
2. Primer Annealing (45C - 68 C)
o The primers bind into the strands.
3. Primer Extension (72C)
o The polymerase does its thing!
Applications
Pre-implantation genetic diagnosis as an application of PCR
Forensics (The Innocence Project)
Screen blood products for diseases
Viral Infections in wild monkeys by collecting feces
Sequencing the Neanderthal Genome.
o Dideoxy DNA Sequencing
Chain-terminating bases are the key to DNA sequencing
They are color coded (fluorescent chain-terminating nucleotides)
Dideoxynucleotide Triphosphate: Its literally the chain-
terminating nucleotides
o Next Generation Sequencing (You dont have to know this)
Dideoxy DNA Sequencing via Computers
Questions!
o What is the consequence of a mutation that eliminates DNA polymerases
exonuclease activity?
a) The mutation rate goes up
b) The mutation rate goes down
o If DNA Polymerase has a mutation rate of 1 in a 106, how many errors will it
make when copying a human genome of 109 bps?
a) 101 errors
b) 102 errors
c) 103 errors
d) 104 errors
o Ive designed two primers: Primer A is 50% A/T, 50% G/C; Primer B is 80%
A/T, 20% G/C. Which one can be annealed at a higher temperature
a) A
b) B
o What are the three components of a Nucleotide?
o How many hydrogen bonds does the A-T pair have? G-C pair?
o What are the core differences between semiconservative, conservative, and
dispersive replication?
o What is the origin of replication?
o What are the three main steps of PCR?
o What is a dideoxynucleotide triphosphate? How is it used to sequence?
Gene Expression: Transcription of mRNA NEED TO REORGANIZE THIS SECTION
Learning Objectives!
o What is the process of transcription?
 o Know how to decipher mRNA sequences from DNA and vice versa
o What are the differences between bacterial and eukaryotic transcription?
o What are the different consequences of mutations in promoters? (This is
important)
o Differences between promoters, enhancers, and silencers.
o How does alternative splicing bring about protein diversity?
This has to do with the question of the 4 language DNA
The Central Dogma: DNA into phenotype
o DNA to RNA to Protein (Essentially)
Proteins (The Gist with unique exceptions we dont care about )
o Enzymes
o Components of cells
o Determine how we function and look
o Transitive Property: If DNA determines proteins and proteins determines
phenotype, then DNA determines phenotypes.
Gene Expression: We just talked about this (Hint: Dogma)
o Some genes work as RNA though (just transcribed and not translated)
rRNA and tRNA
o A gene is expressed when its transcribed and translated into protein.
o Expression
Some are expressed all the time
A gene for growing hair and nails for instance.
Some are expressed sometimes (sorry for all the somes)
Think homeostasis
o Every cell contains ALL genes but not all genes are expressed.
Same DNA in all the Nuclei (Every Nucleus)
Housekeeping Genes: They keep the cell running
Expressed virtually in all cells
Cell-type-specific genes
Only certain cells
Would a stratified muscle cell be found in your liver? (please dont
say yes)
Essentially, most genes are not expressed all the dang time (Sorry for the
reiterations, there were like 5 slides on this so I had to make sure Im
equally annoying. At least now you wont get this wrong .)
RNA Synthesis/Transcription (This one is fun I think)
o Coding Strand vs Template Strand
o Sense Strand vs Antisense Strand (Im guessing you want to look which one is
which but, its respective )
Promoter Sequences
o It is where RNA polymerase binds to in order to initiate transcription
Located Upstream the Transcription Starting Location
o RNA Polymerase has Differences in Eukaryotes and Prokaryotes
Prokaryotes have the basic -35 and -10 consensus sequences.
 Eukaryotes contain (1) 3 or more consensus sequences, (2) have
interspersed, non-consensus sequences that affect the efficiency of
transcription, and (3)have more complex consensus sequences spanning
100 or more nucleotides.
o Complete Initiation Complex
Ingredients
RNA Polymerase (Which simultaneous acts as ligase)
o RNA Polymerase II is what transcribes mRNA in
Eukaryotes with RNA Polymerase I and III making tRNA
and rRNA.
Transcription factors
Various Proteins (see enhancers and silencers)
They bend the DNA into a U shape (in eukaryotes)
Enhancers or Silencers are really far upstream the transcription
start so the DNA has to bend for these promoters to work.
o Enhancers: Attaches Activator proteins to the Initiation complex (and thusly,
activates the genes. Doy)
o Silencers: Attaches Repressor Proteins (Silences Genes)
o Mutations on Promoters
For the most part, they reduce transcription to nearly nothing
Exception: some sequences on the CAAT box lead to greater
transcription.
o Promoters determine where transcription starts and in which direction it proceeds.
o Promoters are on both sides of the DNA (genes are on both sides of the DNA)
However, they do not overlap (which wouldnt make sense if you think
about it)
o Promoters also only make sense in one direction (doy).
o Termination Sequences determine where an mRNA ends.
mRNA Splicing
o Introns vs Exons (Unexpressed vs Expressed genes respectively)
Most RNAs discarded in mammals
Exons are mostly maintained in order but some exons can be spliced out
as well (exon skipping)
o Only happens in the Nucleus
o Resulting mRNAs vary under certain conditions (alternative splicing)
It is why there are so many different types of proteins and crap.
Proteins and Domains (This isnt too hard to understand so dont get scared)
o Domain: an independent folding unit (essentially, a section of the folded protein)
o In general, 1 exon = 1 domain.
o This basically translates to the possibility of different types of proteins from
different domains/exons/parts.
o Exons are Modular
1 to 2 to 3
1 to 3
Alternative Splicing
o Rise to variants in proteins for different types of tissues.
 Leads to different forms of proteins that have different functions (form
and function have a direct relationship)
o Key Concepts
Splicing only links up exons from the same gene and not from different
genes (imagine the horror)
Orders are again not changed, it can either include an exon or not include
one at all
Exons are also never duplicated in a mature mRNA
So you wont get like exon 1 and exon 1 in the same mRNA
strand.
Questions
o The Sequence of the RNA transcript is 5'-GGUUACAUUC-3. What is the
sequence of the DNA template?
a) 5-GAATGTAACC-3
b) 5-GGUUACAUUC-3
c) 5-GGTTACATTC-3
o Which of the following is true?
a) Eukaryotes have more than on RNA polymerase
b) Bacterial transcripts contain introns
c) Enhancers are found in both prokaryotes and eukaryotes
d) Splicing can make a transcript with exons from two different genes
e) Different cells in your body are different (mostly) because their DNA is
different.
o What are the three structure/chemical differences between RNA and DNA?
o Differences between mRNA, tRNA, and rRNA
Are all of these RNAs translated into proteins?
o Where do promoters lie, in the coding strand or sense strand?
Hint: it is a trick question
o What are the differences between prokaryotic and eukaryotic transcription?
Hint: complexity
o Which RNA polymerase makes mRNAs in eukaryotes?
o What do promoters even do?
o What are the differences between an enhancer and a silencer? What are their
locations relative to the transcription start site?
Use the terms Upstream or Downstream
o What three mechanisms are used in eukaryotes to increase the diversity of
proteins?
Chromosome Structure (yeah, I get it. There is sooo much to learn but hang in there!)
Learning Objectives
o Why DNA compactions is necessary in bacteria and eukaryotes
o Nucleosome structure and chromatin organization
o Epigenetics and its modifications in chromatin
How do these modifications affect DNA accessibility and gene
expression?
o Describe Chromatins and the purpose of centromeres.
 Bacterial DNA compacting
o Bacterial Chromosomes are mostly circular
o They form Nucleoids: small, densely packed regions
o What allows DNA compacting?
Proteins which help organize DNA into loops
The possibility of circular DNA to undergo supercoiling (Think a rubber
band but u twist it over and over again until it fits into a smaller space)
Another analogy: An old tangled telephone wire.
Eukaryotic Chromosome Compaction
o Eukaryotic DNA is 10 times more tightly packed than in Bacteria (lots and lots of
information!)
o Chromosomes:
There are 23 pairs (You got one from each parent)
There are 23 pairs in EVERY CELL you got.
o Chromatins: where DNA is tightly organized
Chromatins make up Chromosomes
It is only visible when it condenses and through light microscopy.
Ingredients: ~50% proteins and ~50% DNA
Histone proteins: They are the ones the tightly pack DNA
o Majority of proteins in Chromatins
o 5 Major types
H1, H2A, H2B, H3, and H4.
o DNA has a negative charge
So if they were to pack on their own, would they?
(do the negative poles on a magnet attach together)
Non-histone Proteins: diverse and do many tasks in nucleus
Octameric Nucleosomes
Essentially, DNA is wrapped around all histones but the H1
histone. This forms a nucleosome.
H1 on the other hand, stabilizes the nucleosome. (I like to think of
H1 as the tape that keeps it wrapped around the histone core)
They can block access to DNA and prevent transcription
o Histones get in the way. Active sights have less histones
o Histones can they be displaced to open chromatin
Active Gene Expression in Chromatin? NEED TO FILL OUT
DEFINITIONS
Yeah it can still happen. Specifically, areas of chromatin are
decondenses in order for transcription to occur. (This is during
interphase: the phase between the resting and separation phases)
Condensing occurs in different degrees
o Euchromatin: Area of active expression and thus not
tightly condensed (where most genes are found)
o Heterochromatin: tightly condense but with few active
genes. It also has two types. (Centromere and telomeres are
Heterochromatins)
Facultative
 Constitutive
Centromeres
The most condensed portions of Sister Chromatins
Kinetochore Proteins bind the centromere and for the kinetochore
Also composed of DNA repeats in which kinetochore proteins
attach to
Spindle fibers than form in the centromere to pull chromosomes to
opposite polls
o Epigenetics
Literally translates to above the genome. They regulate gene expression
without altering DNA sequence
DNA Methylation, Histone Modifications, X Chromosome
inactivation, etc.
DNA Methylation: Methylated areas silence DNA expression
Modifications in Chromatin:
Histones can be modified by the addition or removal of chemical
groups. (so it can turn the function of histones on or off; leads to
whether or not chromatin is condensed or opened).
These modifications specifically add or remove acetyl and methyl
groups from histones and the methylation of Cytosine in DNA.
Methylation: Genes repressed.
Acetylation: Reduces positively charged chromatin and consequently
decondenses and activates genes.
Histones tend to be modified on their tails.
Questions!
o Which of the following are true of actively transcribed genes?
a) They have lots of nucleosomes around their promoter.
b) They are not tightly compacted.
c) The nearby histones dont have any modifications.
o DNAse I is an enzyme that can cut DNA when chromatin is open but not when it
is closed. Regions that can be cut are labelled as such: DNAse I hypersensitive
regions. Which of these regions are DNAse I hypersensitive?
a) The coding region of a gene that is not expressed
b) A centromere
c) The enhancer of a gene that is actively being transcribed
d) A region of DNA that is methylated
e) A region of DNA that has methylated nucleosomes
o Which of the following is true?
a) Histones are positively charged, which allows them to interact with
negatively charged DNA
b) The 5 types of histone proteins are H1, H2, H3, H4, and, H5
c) Chromatin is only present during mitosis
d) Histones are negatively charged, which allows them to interact with
positively charged DNA
 o I have found a species of plant with a core DNA length of 146 and a linker-DNA
length of 54. It has a genome that is 200 million bps. What is the approximate
number of nucleosomes in the nucleus?
a) 1000
b) 105
c) 106
d) 2 x 106
e) 1010
o What is a nucleoid?
o What two mechanisms are used to compact bacterial genome?
o What is a chromatin?
o What is a nucleosome and what is its structure composed of?
o What kind of chromatin does the centromere lie in? In which point of the cell
cycle are they most important?
o How are chromatins decondensed? Why would they decondense?
o What are the two primary modifications in histones?
Translation of mRNA (dont ask me why its in this order)
Learning Objectives (again)
o List the similarities and differences between bacterial (prokaryotic) and
eukaryotic transcription (you can already sort of define a few of these at this
point)
o Reading genetic code and predicting peptide sequences from DNA or RNA
sequences (This one can get tricky. The trick (hehe) is to simply take it slow!)
o Explain the role of tRNA and aminoacylsynthetases
o Describe translation, elongation, and termination (translation as a whole)
o Predict the consequences for missense, frameshift, and nonsense mutations.
mRNAs
o Eukaryotic mRNAs encode for only a single protein.
o Prokaryotic mRNA however can be polycistronic: it can code for multiple
proteins
Why? Well prokaryotes dont live in stable environments like cells in
our bodies. Thus, they need to be able to adapt constantly and survive by
being able to translate appropriate proteins on the spot!
o They also have untranslated regions on near their ends (all important for
translation)
5 prime cap
PolyA tail
Codons: Non-overlapping nucleotide triplets each of which corresponds to an amino acid.
o There are 61 codons for 20 amino acids
Redundancy ELABORATE
Translation
o Ribosomes
Ribosomes bind to mRNA and identify the start codon (AUG) for
translation.
They bring about complementary pairing between mRNA codons and
tRNA anti-codons.
 Catalyze peptide bond formation between amino acids
Structure
Large and small body
A site: where new tRNAs and release factor attaches too
P site: where the chain is built
E site: where the tRNA that already attached its amino acids exits
o tRNAs
They pair anti-codons with appropriate amino acids
It has the shape of a boot
Aminoacyl tRNA synthetases is the enzyme responsible for attaching the
correct amino acid to the right tRNA
o Amino Acids
Structure:
Amino Group
R chain
Carboxyl
Proteins are polar
o Steps to translation:
1. Initiation:
Initiation factors bind to 5 prime cap of mRNAs
Initiation complex forms which involve
o Eukaryotic Initiations factors (eIFs)
o Initiator tRNA
o Small ribosomal unit (the one on the bottom)
This complex then scans along the mRNA from 5 to 3 looking
for AUG (The start codon)
After finding the start codon, eIFs leave and large ribosomal unit is
attached.
AUG or methionine tRNA is in the P (peptidyl site)
2. Elongation:
Ribosomes move on codon down on mRNA
New tRNA enters to the A (acceptor) site
Peptide bond is formed with amino acid on tRNA in P site
Repeat
Energy provided by GTP hydrolysis on elongation factors
3. Termination:
There is no tRNA for stop codons. Instead when the codon is
reached, a release factor binds in the A site instead and dissolves
the ribosomal structure.
After the stop codon, the UTR is left.
o Where does translation take place?
In Eukaryotes, transcription occurs in the nucleus with translation in the
cytoplasm.
In Prokaryotes, transcription and translation are coupled.
Why? The nucleus is absent in bacteria!
 o The Genetic Code
Its the chart or the circle with all the letters.
You only really have to know the start codon (AUG) and the stop
codons (UAA, UAG, UGA)
Questions! (There is a lack of questions in this section. Sorry )
o How can the terms amino acids, peptide bonds, and polypeptides be used in a
single sentence?
o What are the steps of translation and what does each step do?
o In which direction is an mRNA translated? In which direction is a polypeptide
synthesized?
o What is a UTR?
o What are the differences of translation in bacteria and eukaryotes?
o What is a polycistronic mRNA?
o Why is the genetic code triplets?
o What are synonymous codons?
o How do the aminoacyl-tRNA synthetases translate the genetic code?
Mendelian Genetics (This is one is actually fun!)
Objectives!
o Use proper terminology (why cant they just say WORDS) to describe genetics
and inheritance.
o Predict the phenotype of an organism given its genotype and vice versa.
o Explain the molecular basis of dominant and recessive alleles.
How does what we see in a punnett square work in reality?
o Use Punnett squares and probability rules to predict characteristics of offspring in
monohybrid and dihybrid crosses. (Just be thankful we dont have to deal with
more than dihybrid crosses!)
o Analyze the experimental conditions that allowed Mendels analysis
o Describe the various consequences of Mendels laws of segregation and
independent assortment.
o Explain single gene inheritance ratios.
o Apply test cross to determine an unknown genotype
o Predict genotype and phenotypic rations in independently assorting dihybrids.
Mendels Time
o He used the scientific method to find the true logic behind genetics
o Blending theory was a famous explanation of why genes act the way they do at
the time even though it was never proven.
o Mendels Experimental Innovations
Selection of traits with clear phenotypes
Pure breeding strains
He kept mating the organisms until they were only giving birth to
one type of offspring. (lol if this had no context and I had used the
terms parents and children instead, xD)
Controlled crosses between plants
Quantification of results (he counted them!)
Replication, reciprocal (change genders) and Test Cross analysis.
Basic Terms (define on your own!)
 o Homozygous
o Heterozygous
o Dominant
o Recessive
o Reciprocal Crosses: gender swap (not transgenderism)
o Test Cross: Basically, mating backwards to a recessive homozygous individual.
Law of Segregation: traits are controlled by alleles.
o These alleles can be dominant or recessive
o Individuals contain two particles that segregate into pollen and egg
Individuals are diploid and alleles segregate into gametes
o Particles combine at random during fertilization
Law of Independent Assortment: Segregation of an allele at one gene is independent of
the segregation alleles at another gene.
Dihybrid Crossings: Now there are two letters!
o I cant figure out how to explain this exactly (which is probably bad for me) but
you just have to look it up.
Gamete Frequency
o Addition Rule
o Multiplication Rule
Questions! (These questions are probably the most useful in studying this section.
Punnett squares are very mathematical and math problems are best learn through
practice!)
o Are pure breeding strains homozygous or heterozygous?
a) Homozygous
b) Heterozygous
o Two true-breeding pea strains (yellow and green) are crossed. All F1 progeny are
yellow. Which trait is dominant?
a) Yellow
b) Green
c) Brown (LOL)
o Two true-breeding pea strains (yellow and green) are crossed. All F1 progeny are
yellow. What are the genotypes of the F1 progeny?
a) YY
b) Yy
c) Yy
d) YY and Yy
e) YY, Yy, and yy (1:2:1)
o Two true-breeding pea strains (yellow and green) are crossed. All F1 progeny are
yellow. What proportion of the F1 progeny will be true breeding?
a) 100%
b) 200%
c) 50%
d) 25%
e) None
 o Two true-breeding pea strains (yellow and green) are crossed. All F1 progeny are
yellow. All F1 progeny are yellow. What proportion of the F2 will be true-
breeding?
a) 100%
b) 76%
c) 50%
d) 25%
e) 0%
o If a pea plant of genotype GgRr is test-crossed, what phenotype raitos are
expected among the progeny?
a) 1:1:1:1
b) 9:3:3:1
c) 1:3:3:1
d) 1:2:1
o If a pea plant of genotype GgRr is test-crossed, what genotype ratios are expected
among the progeny?
a) 1:1:1:1
b) 9:3:3:1
c) 1:3:3:1
d) 1:2:1
o How many different types of gametes can be produced by a short plant with
yellow, round peas with the following genotype (YyRRSs)?
a) 3
b) 4
c) 6
d) 8
e) 16
o In peas, round seeds and purple flowers are dominant. If I cross a plant that has
wrinkled seeds and white flowers to a plant that is homozygous for round seeds
and heterozygous for purple flower traits, what fraction of the offspring will have
wrinkled seeds and purple flowers?
a) 0
b)
c)
d) 3/8
e)
o What is blending theory?
o What are the unique innovations Mendel hand when determining his discovery in
genetics?
o At which generation could Mendel tell the blending theory was incorrect?
o Are pure breeding plants homozygous or heterozygous?
Mendel II (AGAIN!)
Objectives
o Chi Square Analysis to test whether or not phenotypic ratios are consistent with
Mendels law of segregations
o Explain single gene inheritance in humans
 o Draw a pedigree and predict inheritance patterns, genotypes, and phenotypes.
Experiments vs Predictions
o Real data doesnt match predictions precisely.
Why? Because of random chance (just like how I study so hard but dont
get As )
o Chi Squared Equation!
X2 = (O-E)2/E
Think of X2 sorta like r2 in graphs. Its a test statistic of how accurate your
points are to the curve.
O: Observed Values
E: Expected Values.
o Chi Squared Chart
So we dont really need to know the math for this. All we have to know is
how to get the chi squared value and the P value is there for us. Then from
there, we know whether or not we reject the current hypothesis.
p = 1; 1>p>0.05
Dont throw the hypothesis away
p < 0.05
YEET (throw it away)
Just because you didnt throw the hypothesis doesnt necessarily mean you
are correct. All it means now is that your data is accurate in regards to the
predictions.
Think about it, what if your reasons to your correct predictions
only work for this certain scenario and not another?
Chi Squared is most POWERFUL when rejecting a null hypothesis.
Its basically a hypothesis you guess is not true. It helps you
eliminate variables and other possibilities and helps you narrow
down your focus in an experiment.
Generations of Freedom (not because we live in this country lol)
Its the df value in the Chi Squared Chart. Basically, how many
other possibilities you got.
The number of possibilities minus 1 is how you determine this
number.
Single Gene inheritance in humans
o Simple mendelian inheritance in us!
o Examples
Colorblindness
Freckles
Human Diseases
o Carriers
They are individuals that are heterozygous for a recessive genetic disease
Pedigrees (these seem complicated but all it takes is some getting used to)
o I didnt want to leave examples here because if I put pictures in this study guide
and this is your first time reviewing for bio, you wont actually try to figure it out.
So, look it up for yourself!
 Questions!
o I am now analyzing the data from
Mendels dihybrid F2 generation.
How many degrees of freedom
should I use when finding the p-value
from the chi-square table?
a) 1
b) 2
c) 3
d) 4
o A couple who are both carriers of the
gene for cystic fibrosis have two
children who have cystic fibrosis.
The parents:
a) Are homozygous for a mutation in the cystic fibrosis gene.
b) Are heterozygous for a mutation in the cystic fibrosis gene.
c) Have cystic fibrosis
d) Will develop cystic fibrosis.
Hint: the question literally states the answer.

o
o Why do we need to use chi squared?
o What is the p-value? What is the formula
o What is autosomal inheritance?
Remember that an autosome is a chromosome that isnt a sex
chromosome.
Mitosis, Meiosis, X-linked Inheritance (These topics are also basically the learning objectives.
You try writing all this out lol)
Somatic: Body Cells
Cell replication general steps
o Steps:
G1: Active gene expression and cell activity. Prepping for DNA synthesis.
G0: Terminal differentiation and arrest of cell division.
o Cell remains specialized but does not divide.
o Eventual cell death (apoptosis)
 S Phase: DNA replication and chromosome duplication.
G2: Preparation for cell division.
M Phase: Cell division Mitosis (somatic cells); Meiosis (germ-line cells)
Chromosome and Chromatid Confusions (I hate this too dw)
o Chromatids
Sister chromatids that are attached are still ONE chromosome.
Mitosis: Creation of identical sister cells; diploids
o Interphase: prep
o Prophase: Duplication and Centromere; other stuff starts to build up
o Prometaphase: going towards metaphase plate
o Metaphase: Metaphase plate
o Anaphase: Centromeres break and chromosomes move towards opposite ends
o Telophase and Cytokines: They divide. The end.
Meiosis: produces haploids; gametes (best learnt finger rule)
o It produces 4 daughter cells that are haploid (so not like mitosis that only makes 2
cells)
o Meiosis 1:
Prophase 1: instead of only 2 sister chromatids that divide, you have the 2
chromosomes from each parent dividing first.
Crossing over takes place here
Metaphase 1
Anaphase 1
Telophase 1 and Cytokinesis
o Meiosis 2:
Prophase II: now the chromatids separate (haploids)
Metaphase II
Anaphase II
Telophase II and Cytokinesis
Sex Linked Inheritance
o For instance, gene is only present on X chromosome.
I honestly dont know how to explain this besides telling yall to simple
practice practice!
Questions!
o Your best bet are on discussion worksheets and practice tests for practice!
Gene Interactions (lots of vocabulary so be ready but GOOD you made it to the end!)
Learning Objectives
o First, this is another section that youll simply need to practice with.
o Describe the different classes of gain-of-function and loss-of-function mutations
and relate these classes to Mendels definitions of dominant and recessive alleles.
o Describe variations from classic Mendelian genetics.
o Explain how these result in altered phenotypic ratios in F1 and F2 generations.
Functional Types of Mutations
o Loss of function
Null/Amorphic: If allele is affected, absolutely no functional product
(hence null)
 Leaky/hypomorphic: If allele is affected, some of the product is
functional (hency leaky and hypo)
Dominant Negative Mutation: Abnormal products that lead to
malformed proteins (like a cop in a party)
o Gain of function
Hypermorphic Mutation: Excessive gene action
Neomorphic Mutation: (neo = new), new gene function
Variations from Classic Mendelian Genetics
o Epistasis: When one gene locus alters another gene locus
o Incomplete dominance: heterozygotes show a blend of phenotypes
o Co-Dominance: When both alleles are fully expressed
Blood types!
o Multiple alleles: when more than two alleles affect a phenotype
So instead of having RR for instance, now you got RRR (ik)
o Penetrance and Expressivity: whether or not a mutation affects the individual and
the severity of the mutation respectively.
o Pleiotropy: a single gene affects many traits
o Polygenic Inheritance: reciprocal of pleiotropy; multiple genes are responsible for
a phenotype.
Many genes
o Environmental impact
Think of diet when it comes to diseases
Complementation Analysis
o Complementation occurs when two strains of an organism with different recessive
mutations produce the same mutant phenotype.
Do these two mutations complement to produce a certain phenotype or
not?
Basically epistasis.
o And so, complementation analysis is used to determine whether the mutant
phenotype came from the same gene or different genes
This is important because genes in reality are incredibly complex!
Allelic Series
o Multiple Alleles
o Order of Dominance
Lethal alleles
o Screws up genotype and phenotype ratios
Sorta like pedigrees when they limit the ratios