Introduction to Genetics(1)

Every living organism is made up of many different traits or distinguishing

characteristics
Examples: Hair color, eye color, amount of fingers
Genetics is the branch of Biology that studies how information about traits is passed
on from generation to generation and how that process determines variation among
offspring
Genetic information that determines traits is stored in chromosomes
Found in the nucleus of each cell in your body
Each chromosome carries the information for a specific set of traits
Your body contains two types of cells
Somatic cells and Gamete cells

Somatic Cells
All of the cells in your body except for those found in the testes of males or ovaries of
females
Each somatic cell contains a full set of chromosomes
Human somatic cells contain 46 chromosomes (23 pairs)
Gamete Cells
The cells found in the testis of males (sperm cells) and in the ovaries of females (egg
cells)
Each gamete contains half of a full set of chromosomes
Human gametes contain 23 chromosomes

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Terminology
Chromosome
A linear DNA molecule complexed with RNA
and proteins
Chromatid
One of two identical or replicated copies of a
chromosome that are attached
Generally called sister chromatids
Homologous Chromosomes
Pair of chromosomes that carry the same type
of information (eye color, etc.) but not necessarily identical

Haploid
Cells which only have one copy of a
chromosome
In humans, only the gametes
Diploid
Cells which have two copies of a
chromosomes
In humans, all cells except for the gametes

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Genes
Section of the chromosome that governs the expression of a particular trait
Region of DNA that codes for a protein
Alleles
Genes can have different forms or variations
Dominant allele is given a Capital letter
Recessive allele is in Lowercase letters
Dominant trait
Trait is always expressed or one that appears in individuals
Recessive trait
Characteristic that is present, but not expressed unless no other possible
traits exist.
Locus
Physical location of a gene on a chromosome

Homozygous
When an individual has two copies of the same allele or gene
Can be homozygous dominant or recessive
Heterozygous
When an individual has two different copies of a given gene or allele
Phenotype
Physical traits caused by the genes/alleles

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 Physical appearance of an organism
Genotype
Combination of alleles in an individual
Genetic makeup of the organism

Mitosis(2)
Biology is the only subject in which multiplication is the same thing as division
You started as a cell smaller than a period at the end of a sentence.
How did you get here?
You started out as a single cell after sperm meets egg
Cell divides, and divides, and divides, and divides, and divides, and divides, and
divides, and divides, and divides, and divides

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Why do cells divide?
For reproduction
Asexual
Single celled organisms
For growth
From fertilized egg to multi-celled organism
For repair and renewal
To replace cells that die from normal wear & tear or from injury

Phases of Mitosis (Interphase)

90% of cell life cycle
Cell doing its “everyday job”
Produce RNA, synthesize proteins/enzymes
Prepares for duplication if triggered

Mitosis
Dividing cell’s DNA between 2 daughter nuclei
4 phases
Prophase
Metaphase
Anaphase
Telophase

Prophase

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 Chromatin condenses into visible chromosomes
Centrioles move to opposite poles of cell
Spindle fibers attach to centromeres
Coordinates movement of chromosomes
Nuclear Membrane breaks down
Metaphase
Chromosomes align along middle of cell
Helps to ensure chromosomes separate properly so each new nucleus
receives only one copy of each chromosome
Anaphase
Sister chromatids separate at centromere
Move to opposite poles
Telophase
Chromosomes arrive at opposite poles
Daughter nuclei form
Chromosomes unwind
Spindle fibers disperse
Cytokinesis begins
Cell division

Meiosis(3)
What if a complex multicellular organism (like us) wants to reproduce?
Joining of egg and sperm
What if we make egg & sperm by mitosis?

How do we make sperm & eggs?

Must reduce the 46 chromosomes
Must reduce the number of chromosomes by half.

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Homologous Chromosomes
Paired chromosomes
Both chromosomes of a pair carry “matching” genes
Control same inherited characteristics

Chromosome number must be reduced

Humans: 46  23
Meiosis reduces chromosome number
Fertilization restores chromosome number
Haploid  Diploid

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 Overall Goal: Double division (split twice)

Meiosis I
1st division of meiosis separates homologous pairs

Prophase I
During prophase I, homologous chromosomes pair and form synapses
Formation of chiasma (crossing over)

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Metaphase I
Tetrads, each composed of two chromosomes (four chromatids) align at the centre
of the cell
Orientation is random

Anaphase I
Chromosomes, each with two chromatids, move to separate poles

Telophase I
Nuclear envelopes may reform, or the cell may quickly start Meiosis 2.
Very similar to telophase in mitosis
Meiosis II
Meiosis II is similar to mitosis. (Only 23 chromosomes instead of 46)
The chromatids of each chromosome are no longer identical because of
recombination

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 Mitosis Meiosis
1 Division 2 Divisions

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Daughter cells are identical to parent Daughter cells different from parent
due to crossing over and number of
chromosomes is different
Produces 2 cells Produces 4 cells

Diploid (Full set of chromosomes) Haploid (Half set of chromosomes)

No crossing over of chromosomes Crossing over of chromosomes

Cell growth and repair Produces gametes

Value of Sexual Reproduction

Sexual reproduction introduces genetic variation because of:
Genetic combination
Crossing over
Drives evolution
Provides variation for evolution by natural selection
Crossing Over
Crossing over creates completely new combinations of traits on each chromosome
Creates infinite variety in gametes

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Variability
Sexual reproduction allows us to maintain both genetic similarity & differences.

DNA(4)
Structure of DNA
DNA is composed of nucleotides which consist of a phosphate group, sugar and a
nitrogen containing base.
These nucleotides are arranged so that the entire structure of DNA forms a double
helix

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There are two groups of nitrogen bases
Purines
Pyrimidines
Purines are made up of 2 rings and consist of Adenine and Guanine
Pyrimidines are made up of 1 ring and consist of Thymine and Cytosine
Amount of adenine present always equals amount of thymine
Amount of cytosine present always equals amount of guanine

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DNA Replication
In order to replicate itself, DNA needs to unwind, pull apart, and make another copy
Since the two strands of DNA are complimentary, each stores the information
necessary to reconstruct the other
There are 3 major processes of DNA replication:
Separating the DNA strands
Building the complimentary strands
DNA repair
The replication of a DNA molecule occurs at the Origin of Replication
DNA straightens out, uncoils
Hydrogen bonds holding DNA together break, DNA strands split up

An enzyme called DNA Polymerase 3 catalyzes the creation of a new strand, at and
beyond the replication fork
The new nucleotides go in by complimentary base pairing
DNA Polymerase 2 fixes any mistakes
DNA Polymerase 1 gets rid of RNA, in order for replacement with DNA, and gets rid of
primer

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A primer gets this started so the Polymerase can do their work.
Order is 3, 1, 3, 2
As nucleotides align along the template strand, DNA Polymerase 3 adds them
This reaction requires energy (in the form of ATP)
Karyotype
A karyotype is an illustration of the chromosomes in a human
Humans possess 23 pairs, 46 total chromosomes

Stop cell division when chromosomes are bound together

Take a picture and enlarge/enhance
Stain chromosomes to help recognize differences
Cut out each chromosome and pair them up
Karyotyping can help identify genetic anomalies like Down Syndrome

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Changes in Chromosomes
Nondisjunction
Occurs when the chromosomes don’t separate as planned in anaphase
Leaves too many or too few chromosomes in the gametes and then the
person (and this matters in meiosis the most)

Down syndrome (trisomy 21)

When a person has 3 copies of chromosome 21
Deletion
When part of a chromosome is deleted
Can also occur with radiation, chemicals, and viruses

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 Loss of vital information
Duplication
When part of a chromosome is present more than it should
Too many repeats can affect regular function of genes, which messes up
other things causing chain reaction of events.
Inversion
When a sequence of DNA is inverted
Cell cannot read DNA properly, therefore no functioning of genes
Translocation
When a gene is transferred to another chromosome
Gene is not expressed in the correct amounts or at correct time

Mendelian Genetics
Gregor Mendel
Austrian Monk
Gardener, Mathematician
Not a biologist by training
Father of modern genetics

Modern genetics began with Gregor Mendel

Studied inherited traits of the common pea plant
Could be easily grown in large numbers
Reproduction could be manipulated
Got lucky with the peas
Many of the traits are controlled by single genes
Only had two possible traits

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 None of the traits had incomplete dominance or co-dominance
Incomplete dominance is intermediate offspring, a blend.
Co-dominance is when alleles of a gene pair are fully expressed in heterozygote.

Mendel set up experiments with purebred plants

Purebreds are descended from ancestors or a specific breed which all share the
same traits
Bred his plants to get true breeds
True breeds always yield offspring that were all the same (all tall or all short)
Bred a tall plant with a short plant (parent generation, P generation)
Expected a medium height plant
Got all tall plants (filial generation, F1 generation)
Mendel then bred the F1 generation
Got 3 tall, 1 short

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Mendel did many experiments with pea plants examining different traits
Looked at seven traits and all experiments yielded similar results
Inheritance/heredity is not only a blending of the traits

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 Principle of Dominance
When individuals with contrasting traits are crossed, offspring will only express the
dominant trait
Dominant does not mean most common

Mendel’s Postulates
Genetic Characteristics are controlled by Factors (genes) that exist in pairs in individual
organisms
Organisms are diploid (pair of chromosomes)
During the formation of gametes, the paired factors separate, or segregate,
randomly
Each gamete has an equal chance of getting each factor
When two unlike factors are responsible for a single characteristic, one is dominant
and one is recessive
During gamete formation, segregated factors assort independently from each other
What happens for one factor has no effect on another factor
Inherited traits are not linked to other inherited traits
As time and research progressed, modifications to these postulates were made
More on this later

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 Punnett Squares
Tool devised by Reginald Punnett to visualize the results of recombining gametes

First we need to know the genotypes of the parents to set up a test cross
Example: Yellow beans (Y) are dominant over green beans (y). Suppose we cross a
heterozygous yellow bean plant with a green bean plant.
Step 1: The parents genotypes are: Yy and yy
Step 2: Isolate each parents possible genes for the gametes (location does not
matter)

Step 3: Place the possible gametes above a Punnett Square

Step 4: Combine the gametes into each square.

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 Step 5: Figure out the genotype and phenotype ratios
Genotypes: 50% Yy, 50% yy
Phenotypes: 50% yellow, 50% green

Monohybrid cross
Only one trait is being examined (ex. Colour, height)
Dihybrid cross
Two traits are being examined
Carrier
An individual that carries a single copy of a recessive gene
This individual does not present symptoms of the recessive allele

Example: Tall pea plants are dominant over short pea plants. Suppose we cross two
heterozygous tall pea plants. What will the genotype and phenotype ratios be for the
offspring?

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 Example: In humans, brown eyes are dominant over blue eyes. If two blue eyed
people have children, what are the predicted genotype and phenotypes of the children?

Test crosses can also be done looking at two characteristics simultaneously

Dihybrid cross
Recall:
During the formation of gametes, the paired factors seperate
During gamete formation, segregated factors assort independently from each
other

To form the gametes, we need to separate the individual alleles and combine them
Example: Cross two heterozygous tall and yellow pea plants
TtYy: T, t, Y, y: TY, Ty, tY, ty
Now we use these gametes in a Punnett Square

Phenotypes: _______________________________________________________________________

Example: In humans, brown eyes are dominant over blue eyes and freckles are
dominant over non-freckles. If a blue eyed, heterozygous freckled female mates with a

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 heterozygous brown eyes, non-freckled male, what are the expected genotype and
phenotype ratios?

Monohybrid Crosses Worksheet

1. In the eastern collared lizard, Crotaphytus collaris, commonly known as Mountain
Boomers, the genes for length of tail exhibit "incomplete" dominance. Use a Punnett
Square to predict the result of a cross between a heterozygous Long-tailed and a
homozygous Short-tailed Mountain Boomer.

2. Hornless (H) in cattle is dominant over horned (h). A homozygous hornless bull is
mated with a homozygous horned cow. What will be the genotype and phenotype of
the first generation?

3. In tomatoes, red fruit (R) is dominant over yellow fruit (r). A plant that is heterozygous
for red fruit is crossed with a plant that has yellow fruit. What would be the genotypes
and phenotypes of the P and F1 generations?

4. Brown eyes in humans are dominant to blue eyes. A brown-eyed man, whose mother
was blue-eyed, marries a brown-eyed woman whose father had blue eyes. What is the
probability that this couple will have a blue-eyed child?

5. In dogs, wire hair (S) is dominant to smooth (s). In a cross of a homozygous wire-
haired dog with a smooth-haired dog, what will be the phenotype of the F1 generation?

6. Colour-blindness is a sex-linked recessive trait. A woman of normal vision, whose

father was colour-blind marries a man of normal vision whose maternal grandfather
was colour-blind. What type of vision will be expected in their children?

7. Woodrats are medium sized rodents with lots of interesting behaviours. You may know
of them as packrats. Let's assume that the trait of bringing home shiny objects (H) is
controlled by a single locus gene and is dominant to the trait of carrying home only dull
objects (h). Suppose two heterozygous individuals are crossed. How many of each
genotype would be expected if only 4 offspring were produced?

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Answer Key
1.
50% medium tail
50% short tail

2.
100% Hh
100% hornless

3.
P Generation
Rr x rr
F1 Generation
50% Rr – Red
50% rr – Yellow

4.
Man
Bb
Woman
Bb
Cross is Bb x Bb
25% blue eyed kids

5.
100% wire hair

6.
XCXc x XCY
100% of girls is normal vision
50% of boys have normal vision, 50% are colour blind

7.
Hh x Hh
Assume 4 offspring:
1 HH
2 Hh
1 hh

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 Multihybrid Crosses Worksheet
1. In summer squash, white fruit colour (W) is dominant over yellow fruit colour (w) and
disk-shaped fruit (D) is dominant over sphere-shaped fruit (d). If a squash plant true-
breeding for white, disk-shaped fruit is crossed with a plant true-breeding for yellow,
sphere-shaped fruit, what will the phenotypic and genotypic ratios be for the F 1
generation?  What would the phenotypic ratio of the F2 generation be?

2. About 70% of Americans perceive a bitter taste from the chemical phenylthiocarbamide
(PTC). The ability to taste this chemical results from a dominant allele (T) and not
being able to taste PTC is the result of having two recessive alleles (t). Albinism is also a
single locus trait with normal pigment being dominant (A) and the lack of pigment
being recessive (a). A normally pigmented woman who cannot taste PTC has a father
who is an albino taster. She marries a homozygous, normally pigmented man who is a
taster but who has a mother that does not taste PTC. What are the genotypes of the
possible children?

3. Wolves are sometimes observed to have black coats and blue eyes. Assume that these
traits are controlled by single locus genes and are located on different chromosomes.
Assume further that normal coat colour (N) is dominant to black (n) and brown eyes
(B) are dominant to blue (b). Suppose the alpha male and alpha female of a pack (these
are the dominant individuals who do most of the breeding) are black with blue eyes and
normal coloured with brown eyes, respectively. The female is also heterozygous for
both traits. What are the expected phenotypes and genotypes?

4. In guinea pigs, black coat colour (A) is dominant over white (a), short hair (B) is
dominant over long (b), and rough coat (D) is dominant over smooth (d). Show the
Punnett Square for a cross between a homozygous black, short-haired, rough coat
guinea pig and a homozygous white, long-haired, smooth coat guinea pig. What do the
offspring look like?

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Answer Key
1.
WWDD x wwdd
F1
100% WwDd – white, disc shaped
F2
9:3:3:1
White, disc 9
Yellow, disc 3
White, sphere 3
Yellow, sphere 1

2.
Woman
ttAa
Man
TtAA
TA tA
tA TtAA ttAA
ta TtAa ttAa
25% TtAA
25% ttAA
25% TtAa
25% ttAa

3.
Male
nnbb
Female
NnBb
nb
NB NnBb
Nb Nnbb
nB nnBb
nb nnbb
25% NnBb Normal coat, brown eyes
25% Nnbb Normal coat, blue eyes
25% nnBbBlack coat, brown eyes
25% nnbbBlack coat, blue eyes

4.
AABBDD x aabbdd
AaBbDd
100% are black coat, short hair, rough coat

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 Probability
Probability involves predicting how often we should expect a particular event to
occur
Unless there is some outside influence, events usually occur by chance
If you roll a normal 6-sided die, the probability of rolling a ‘3’ is one chance in
six
Each time you roll a die the probability remains the same
When calculating the probability that two (or more) events will occur, the induvial
probabilities for each event are multiplied.
Example: the probability of rolling two consecutive 3’s

The probability of rolling two hundred consecutive three’s is so remote that if it

actually occurred you would suspect loaded die
Biologists use the concept of probability to predict genetic combinations
We have also developed tables and formulae to assist us in making decisions
whether results are obtained by chance, or a special case

Group Data Heads Tails

Expected Number

Expected Ratio

Actual Number

Actual Ratio

Class Data Heads Tails

Expected Number

Expected Ratio

Actual Number

Actual Ratio

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Examples:
A coin is tossed in the air and allowed to land randomly on the table. What is the
probability it will come up heads?

Calculate the probability of throwing three of sixes when three dice are rolled.

What are the chances that a family of four children will have all girls?

What is the probability of drawing a face card from a standard deck of cards?

What is the probability of rolling a Yahtzee? (Five dice of the same value)

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 Chi Squared Test, χ2
Is it significant?
The results of a genetic cross may not give the exact expected ratios
How do you tell if it is “close enough?”
Use the Chi Squared Test for Goodness of Fit

O is the observed results

E is the expected results
Once you solve for χ 2 you compare to a table of critical values
In biology, we normally use a p value of 0.05 meaning that we are 95% confident in our
results (there is a 0.05 or 5% chance our results are not representative)
We also need to consider the degrees of freedom
One less than number of categories.
Then we look up a value in a table (see page 4)
Example: Dr. Bunsen Honeydew predicts that a congenital birth defect will occur in
25% of kittens born, based on the hypothesis that it is caused by a recessive gene in that
breed of cat. After surveying several litters, he found that 44 out of 128 kittens had the
defect. Is his hypothesis correct?

( O−E )2
Category Predicted Outcome Expected Difference Difference2
E

Birth
25% 44 32 12 144 4.5
Defects

No Birth
75% 84 96 -12 144 1.5
Defects

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 Example: A genetics engineer was attempting to cross a tiger and a cheetah. She
predicted a phenotypic outcome of the traits she was observing to be in the following: 4
stripes only, 3 spots only, 9 both stripes and spots. When the cross was performed and
she counted the individuals she found 50 with stripes only, 41 with spots only and 85
with both. According to the Chi-square test, did she get the expected outcome?

( O−E )2
Category Predicted Outcome Expected Difference Difference2
E

Stripes 50 44 6 36 0.82
25%

Spots 41 33 8 64 1.94
18.75%

Stripes
85 99 -14 196 1.98
and Spots 56.25%

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Practice Problems
1. A poker-dealing machine is supposed to deal cards at random, as if from an infinite
deck. In a test, you counted 1600 cards, and observed the following:
Spades 404 Hearts 420 Diamonds 400 Clubs 376
Could it be that the suits are equally likely? Or are these discrepancies too much to be
random?

2. Same as before, but this time jokers are included, and you counted 1662 cards, with
these results:
Spades 404 Hearts 420 Diamonds 400 Clubs 356 Jokers 82
a) How many jokers would you expect out of 1662 random cards? How many of each
suit?
b) Is it possible that the cards are really random? Or are the discrepancies too large?

3. The plant blue-eyed Mary grows on Vancouver Island. The population is ‘dimorphic’ for
purple blotches on the leaves. (There are two phenotypes - plants with blotches, and
plants without blotches). A plant with blotched leaves, which had not yet flowered, was
dug up and taken to a laboratory, where it was allowed to self-pollinate and produce
seeds. These seeds were collected and grown into offspring plants. One randomly
selected (but typical) leaf from each of the offspring is shown in the figure below.

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a) At a first glance (don’t count) what type of inheritance pattern do you think this shows?
b) Predict what you think the original plant’s genotype is, and which allele is dominant.
c) Predict the theoretical outcome of the self-fertilization using a Punnett square.
d) Use this table to compare the observed numbers of each offspring, and the predicted
theoretical numbers, called the ‘expected values’ (The total leaf number is 120).

Blotched Leaves Plain Leaves

Expected

Observed

e) Do these results match with your proposed mode of inheritance?

Answers
1. Random, within reason
2.
a) 62 Jokers, 400 of each suit
b) Too many jokers, not enough clubs to be random
3.
a) Dominant – Recessive
b) Heterozygous
Blotched is dominant, Plain is recessive
c) 75% blotched, 25% plain
d)

Blotched Leaves Plain Leaves

Expected 90 92

Observed 30 28

e) Using a χ2 test, the data supports the mode of inheritance

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 Beyond Mendelian Genetics
Mendelian Genetics
Mendel found that inherited traits were either dominant or recessive
Dominant allele always being expressed
Mendel was lucky
Peas are genetically simple
Most traits are controlled by a single gene
Each gene has only 2 alleles, 1 of which is completely dominant to the other
The relationship between genotype & phenotype is rarely that simple

Incomplete Dominance
In incomplete dominance, blending of traits can be seen
Get intermediate results in heterozygous individuals
Happens frequently in plants
White and red snap dragons are homozygous
When you breed the white with red, you get pink
Not enough pigment to make red flowers with only one red allele
Must use the same letter because we are talking about the same characteristic.
Use R for red
Use R’ for white (because BOTH are DOMINANT)
Example: The Scarlet Tiger moth (Panaxes domanial) can have red wings, yellow
wings, or orange wings. Assume that red wings are expressed from the homozygous RR
genotype, yellow wings from the homozygous R'R' genotype, and orange wings from the
heterozygous genotype. What will be the phenotypic ratio of the F1 generation
resulting from a cross of two orange moths?

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Co-dominance
Occurs when two traits are both dominant
Both alleles are expressed in the individual
2 alleles affect the phenotype equally & separately
Chicken feather colors are both dominant (white and black)
Instead of a new combined trait when in the heterozygous state, each of the
new traits are visible
Example: A cross between a black cat & a tan cat produces a tabby pattern (black & tan
fur together). What percent of kittens would have tan fur if a tabby cat is crossed with a
black cat?

Multiple Alleles
Not all traits have only 2 possibilities
Can have three or more possibilities, multiple alleles
An individuals can only carry two different alleles for a given gene
Some of the alleles can be dominant and recessive, while some can be co-dominant.
Blood types
A, B, AB, O
IA and IB are co-dominant
IA and IB are dominant over iO (just say i because blood type “o” is recessive
anyway)
Same as normal punnet squares, but with different notation.
Example: Suppose a father of blood type A and a mother of blood type B have a child of
type O. What blood types are possible in their subsequent children?

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 Example: Suppose a child is of blood type A and the mother is of type O. What type or
types may the father belong to?

Example: Ross has type B blood and his wife Rachel has type A blood. They are very
shocked to hear that their baby, Emma, has type O blood, and think that a switch might
have been made at the hospital. Can this baby be theirs?

Epistasis
One gene completely masks another gene
Coat colour in mice has 2 separate genes
Coat pigmentation: pigment (C) or no pigment (c)
Coat colour: more pigment (black=B) or less (brown=b)
cc = albino, no matter B allele

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 2 genes: (E,e) & (B,b)
pigment (E) or no pigment (e)
pigment concentration: black (B) to brown (b)

Sex Linked Traits

There are genes on the sex chromosomes as opposed to autosomal chromosomes
First discovered by T.H. Morgan at Columbia University in Drosophila melanogaster

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In humans, there are 2 sex chromosomes: X and Y
2 X chromosomes
Develop as a female
Gene redundancy like autosomal chromosomes
X & Y chromosome
Develop as a male
No reduncancy

Y chromosome
Sex determining region
Master regulator for maleness
Turns on genes for production of male hormones
X chromosome
Other genes/traits beyond sex determination.

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 Pedigrees
Type of diagram that shows genetic relationships between related individuals
Analysis of pedigrees can show relationships between certain traits
We use pedigrees for species where generation time is longer
Can’t easily breed lots of humans to do genetic testing.
Pedigree Symbols

Pedigree analysis reveals Mendelian patterns in human inheritance

Data mapped on a family tree

Modes of Inheritance
4 main ways of inheritance
Autosomal recessive
Autosomal Dominant
Sex linked dominant
Sex linked recessive

Autosomal inheritance results from the 22 sets of chromosomes

Sex-linked inheritance is from the sex chromosomes

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Genetic Counseling
Families with histories of genetic disorders can go get counseling from a genetic
counselor before conception of children
Genetic counselor is a medical professional who gathers information from
interviews, family history and blood testing
Construct a pedigree to help families understand probabilities of genetic disorders
Pedigree can help us understand the past and predict the future
Thousands of genetic disorders are inherited as simple recessive traits
From benign conditions to deadly diseases
albinism
cystic fibrosis
sickle cell anemia
PKU

Diagnostic Techniques
Pre-implantation diagnostic
Done in cases of assisted reproductive technologies.
Take a single cell from the 16 cell stage and do genetic tests and diagnostics

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 Pre-natal diagnosis
Usually done with amniocentesis
Gather amniotic fluid that has skin cells from fetus
Do genetic tests and screens on those cells
Done around week 14 or later

Post birth screening

Heel prick done to get blood for genetic testing

Consanguineous Matings
Mating between two individuals who share a common ancestor in the preceding 2-3
generations
Almost all cultures prohibit consanguineous matings
At least matings between parents and children or siblings
There are many genetic diseases which are caused by recessive alleles which are
rare
Very few people in the world have the defective allele
As long as the carrier selects a mate at random, there is a very low chance of finding a
mate who is also a carrier of that particular genetic disease
However, if they mate with someone consanguineously, then there is a much greater
chance that the two will both be carriers for the same genetic disease

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 Gene Therapy
Medical therapy to replace defective genes with working copies
In theory, allows person to become normal
Take a retrovirus
Retroviruses convert their RNA into DNA and insert into the host.
Use host to replicate
Remove pathogenic parts of virus genome
Replace with target gene
Inject virus into the target human
Virus enters cells of patient and inserts DNA into patient DNA.

Gene Therapy Problems

Inserting gene is random
Can insert in the middle of another necessary gene and disrupt it.
How do you get virus to target cells?
Immune system will be active
Ethical Dilemmas
Would you go for genetic testing?

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 History of Huntington disease
No cure, do you want to know
Pre-natal info
Do you abort the fetus?
Employers and insurance companies
Hiring, firing, cost of insurance

CRISPR-Cas9
Clustered Regularly Interspaced Short Palindromic Repeats.
Comes from bacteria
We create a short RNA sequence to search and target called the Guide RNA (gRNA)
This allows scientists to find specific locations to insert the new DNA instead of
random insertion
Cas-9 is used to cut the target DNA sequence
A designed DNA sequence can then be spliced into the gap

Ethical Dilemmas
What should we do with the technology?
Cure Cancer, sure, no problem
What about editing the genome of an embryo?
Who gets to use it? Will everyone be able to
afford it?

Introduction to Biotechnology
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Biotechnology is the combining of Biology and Technology
It can be considered the application of discoveries in Biology to the production of things
We are trying to make things with living things

It is the industrial production of goods and services by using biological processes or

biological organisms
Biotechnology has been around for ages as the production of wines and spirits by using
bacteria and yeasts for fermentation for thousands of years
It was not until 1973 that we have taken a larger role in the possibilities of
biotechnology

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Process of Biotechnology
1 – Upstream Processing
Getting raw materials ready
Example: Gathering grapes and mashing into juice
2 - Transformation
Reaction of reactant to product
Growth of organism
Example: Yeast changing sugar in juice to ethanol
3 – Downstream Processing
Purification
Removing solid materials, distilling

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Problems with Biotechnology
Reliant on naturally existing processes.
Solution:
Can search for new organisms
Organism may not exist
Mutagenesis (bombarding with radiation to mutate)
Not a good idea, too little hit and too much miss
Could transfer genes from one organism to another
First done in 1973 by Cohen Boyer
Huge discovery, now can combine genes
Biotechnology was expensive for the times
Court solution in 1980
Diamond versus Chakraburty
Cannot patent organism but can patent a
modified organism

Companies can now make money

Court solution moved biotechnology from University Labs to industry

Genentech
Moved insulin to bacteria
Stock went from $35 to $89 in one day
Looked like magic
Not very profitable in the end
Concerns of Biotechnology
Patent versus free exchange
Golden Rice which is high in beta carotene, which is
converted to Vitamin A
Companies want royalties but poor people cannot afford it
Diagnostic procedures
Predisposition to certain diseases

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Will the poor have access?

Recombinant DNA Technology

Also known as Gene Cloning or Molecular Cloning
4 steps in recombinant DNA Technology
1. DNA extracted from donor and joined to a vector
2. DNA construct transferred to a host cell, called transformation
3. Selecting for host cells with DNA construct
4. Protein production is induced (optional)

We must be able to cut DNA into reproducible pieces

Sonication
Shake the DNA using sound waves
Breaks up DNA, but not reproducible
Force DNA through a small bore needle
Shears DNA through shear force
Putting garlic through a garlic press

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 Breaks up DNA, but not reproducible
Restriction Endonucleases (Type II)
Enzymes found in bacteria
Recognize specific DNA sequences and cut within that sequence at a certain set of
base pairs
Likely a defensive mechanism to cut up foreign DNA
EcoRI
First restriction endonuclease discovered
Binds to a specific palindromic DNA
sequence, 6 base pairs (GATTC)
Binds and chops between G and A on
each side
Leaves a recessed 3’ OH and an exposed 5’ P
group
Leaves complimentary extensions of DNA, single stranded
Leaves holes within DNA strand, and DNA Ligase comes in and fills holes.

Recognition site may be different lengths, 4, 5, 6, or 8 base pairs

Length of recognition site indicates how often the sequence is cut
4 base pairs is 1 in 256
5 base pairs is 1 in 1024
6 base pairs is 1 in 4096
Gel Electrophoresis
Technique that allows you to determine the size of DNA fragments
Can also be used to separate proteins
Make an agarose slab with wells
Load samples into wells (DNA we want to size)

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3. Place gel in an aqueous electric field
4. Phosphate is a -3 ion and is attracted by positive side and repelled from negative side.
5. Heaviest fragments are largest and get stuck first, and lightest fragments are smallest
and fastest and get stuck last.

4. Samples move through the gel, migrates through the gel

Speed is dependent on size
Smallest DNA moves faster and vice versa
5. Stain gel and look at DNA bands
Make comparison using the ladder of known lengths
6. Determine size of bands via the ladder
Graph or estimate

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 Polymerase Chain Reaction
Very common technique
Very important to explosion in biotechnology
Allows you to produce large quantities of a specific DNA sequence
Requirements
1. Target DNA sequence we wish to amplify
Can have a large range, from 100 base pairs to 35000 base pairs
Do not have to isolate the DNA
2. DNA polymerase that is thermally stable
Comes from Thermus Aquaticus (TAQ), found near hydrothermal vents
3. 2 primers that are complementary to opposite strands and have OH groups facing each
other
Primers are present in large excess
4. The 4 nucleotides

How PCR Works

Denaturation
Increase ingredients to 95 degrees Celsius
Separates double stranded into single stranded
DNA
Renaturation
Allows primer to anneal or to bind to target DNA

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 Usual temperature range is between 35 and 65 degrees
Why does the primer bind instead of complementary strand?
Primer is present in much higher quantity
Primer is much shorter

DNA Synthesis
Occurs at around 72 degrees usually
DNA polymerase uses primers to build/synthesize a complimentary strand

Repeat
Repeating above steps about 30 times yields over 2 billion copies

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Thermocycler
PCR tube sit in a block of metal that changes temperature as prescribed
Temperature goes up and down to denature and renature
Repeat cycle

Uses of PCR
Detecting mutations
Produce DNA for cloning
Pathogen identification

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