Genetics Notes

Genetics is the scientific study of heredity.

 Mendelian Genetics
“Father of Genetics”
Who is Gregor Mendel?

Principle of Independent Assortment – Inheritance of one

trait has no effect on the inheritance of another trait

Rule of unit factors - states that there are factors that

determine traits, we now know these as alleles.

Law of segregation - suggests that alleles separate

(segregate) during gamete formation.
 Traits
• Genetics – study of how traits are passed from parent
to offspring
• Traits are determined by the genes on the
chromosomes. A gene is a segment of DNA that
determines a trait.
• Chromosomes come in homologous pairs, thus genes
come in pairs.
Homologous pairs – matching genes – one from female
parent and one from male parent
• Example: Humans have 46 chromosomes or 23 pairs.
One set from dad – 23 in sperm
One set from mom – 23 in egg
• One pair of Homologous Chromosomes:

Gene for eye color

(blue eyes)

Homologous pair
of chromosomes

Gene for eye color

(brown eyes)

Alleles – different genes (possibilities) for the same trait

ex: blue eyes or brown eyes
Dominant and Recessive
• Mendel’s second Principle is Dominance – Some alleles
are dominant and some are recessive
• Gene that prevents the other gene from “showing” –
dominant
• Gene that does NOT “show” even though it is present –
recessive
• Symbol – Dominant gene – upper case letter – T
Recessive gene – lower case letter – t

Recessive
Dominant
color
color
Example: Straight thumb is dominant to hitchhiker thumb
T = straight thumb t = hitchhikers thumb

(Always use the same letter for the same gene)

Straight thumb = TT
Straight thumb = Tt
Hitchhikers thumb = tt * Must have 2 recessive alleles
for a recessive trait to “show”
• Both genes of a pair are the same –
homozygous or purebred
TT – homozygous dominant
tt – homozygous recessive

• One dominant and one recessive gene –

heterozygous or hybrid
Tt – heterozygous

BB – Black
Bb – Black w/ bb – White
white gene
Genotype and Phenotype
• Genotype - the combination of genes an organism has
(actual gene makeup)
Ex: TT, Tt, tt
• Phenotype - the physical appearance resulting from
genetic makeup
Ex: hitchhiker’s thumb or straight thumb
● The genotype determines the phenotype.
Notation of Generations (P, F1, F2)

• P (Parental) generation-
It is the original pair of plants.
• F1 (first filial) generation-
The offspring of the P
generation.
• F2 (second filial) generation-
The offspring of the F1
generation.
True-breeding vs. Hybrid
True breeding means the organism has a pure
genotype and will only produce offspring that
have the same trait as the parents.

Hybrid means the organism has been produced

by parents that have two different traits, so
either trait could be seen in the offspring.
Punnett Squares and Probability
• monohybrid crosses are involving one trait
• Punnett squares are used to predict the possible gene
makeup of offspring
• Example: Black fur (B) is dominant to white fur (b) in mice
1. Cross a heterozygous male with a homozygous recessive female.

Black fur (B) White fur (b)

Heterozygous Homozygous
male recessive female

White fur (b) White fur (b)

 Male = Bb X Female = bb
Female gametes – N
(One gene in egg)
b b
Possible offspring – 2N
Male gametes - N B Bb Bb
(One gene in
sperm) b bb bb

Write the ratios in the following orders:

Genotypic ratio = 2 Bb : 2 bb Genotypic ratio
50% Bb : 50% bb homozygous : heterozygous : homozygous
Phenotypic ratio = 2 black : 2 white dominant recessive
50% black : 50% white Phenotypic ratio
dominant : recessive
Cross 2 hybrid mice and give the genotypic ratio and
phenotypic ratio.
B b
Bb X Bb
B BB Bb

b Bb bb

Genotypic ratio = 1 BB : 2 Bb : 1 bb
25% BB : 50% Bb :
25% bb

Phenotypic ratio = 3 black : 1 white

Example: A man and woman, both with brown eyes (B)
marry and have a blue eyed (b) child. What are the
genotypes of the man, woman and child?

Bb X Bb
Man = Bb
B b
Woman = Bb
B BB Bb

b Bb bb
 Crossing involving 2 traits – Dihybrid crosses
• Example: In rabbits black coat (B) is dominant over brown (b) and
straight hair (H) is dominant to curly (h). Cross 2 hybrid rabbits
and give the phenotypic ratio for the first generation of offspring.
• (ADD THIS TO YOUR NOTES): FOIL METHOD First, Outer, Inner, Last
Possible gametes:
BbHh X BbHh
BH BH Gametes BH Bh bH bh
Bh Bh
bH bH BBHH BBHh BbHH BbHh
bh bh BH

Phenotypes - 9:3:3:1 Bh BBHh BBhh BbHh Bbhh

9 black and straight
3 black and curly bH BbHH BbHh bbHH bbHh
3 brown and straight
1 brown and curly bh BbHh Bbhh bbHh bbhh
• Example: In rabbits black coat (B) is dominant over brown (b) and
straight hair (H) is dominant to curly (h). Cross a rabbit that is
homozygous dominant for both traits with a rabbit that is
homozygous dominant for black coat and heterozygous for straight
hair. Then give the phenotypic ratio for the first generation of
offspring.

BBHH X BBHh
Possible gametes: BH BH
Bh

BH Bh Gametes
Phenotypes:
BH BBHH BBHh
100% black and straight
Gametes

(Hint: Only design Punnett squares to suit the number of possible gametes.)
Incomplete Dominance and Codominance
• When one allele is NOT completely dominant over
another (they blend) – incomplete dominance
Example: In carnations the color red (R) is incompletely
dominant over white (W). The hybrid color is
pink. Give the genotypic and phenotypic ratio from a
cross between 2 pink flowers.
R W
RW X RW
R RR RW

W RW WW

Genotypic = 1 RR : 2 RW : 1 WW
Phenotypic = 1 red : 2 pink : 1 white
• When both alleles are expressed – Codominance
Example: In certain chickens black feathers are
codominant with white feathers.
Heterozygous chickens have black and white speckled
feathers.
Sex Determination
• People – 46 chromosomes or 23 pairs
• 22 pairs are homologous (look alike) – called autosomes –
determine body traits
1 pair is the sex chromosomes – determines sex (male or female)
• Females – sex chromosomes are homologous (look alike) – label XX
Males – sex chromosomes are different – label XY
• What is the probability of a couple having a boy? Or a girl?

Chance of having female baby? 50%

male baby? 50%

X X
X XX XX

Y XY XY

Who determines the sex of the child? father

Sex – linked Traits
• Genes for these traits are
located only on the X
chromosome at the 23rd
spot (NOT on the Y
chromosome)
• X linked alleles always show
up in males whether
dominant or recessive
because males have only
one X chromosome at the
23rd spot
• Examples of recessive sex-linked disorders:
1. colorblindness – inability to distinguish between
certain colors

You should see 58

(upper left), 18
(upper right), E
(lower left) and 17
(lower right).

Color blindness is the inability to distinguish the differences between certain colors. The most
common type is red-green color blindness, where red and green are seen as the same color.
2. hemophilia – blood won’t clot
• Example: A female that has normal vision but is a carrier
for colorblindness marries a male with normal vision.
Give the expected phenotypes of their children.
N = normal vision
n = colorblindness XN Xn X XN Y
XN Xn
XN XNXN XNXn

Y XNY XnY
Phenotype: 2 normal vision females
1 normal vision male
1 colorblind male
Multiple Alleles
• 3 or more alleles of the same gene that code for a single trait
• In humans, blood type is determined by 3 alleles – A, B, and O
BUT each human can only inherit 2 alleles
1. Dominant – A and B (codominance)
Recessive – O
2. Blood type – A = AA or AO
B = BB or BO
AB = AB
O = OO
Example: What would be the possible blood types of
children born to a female with type AB blood and
a male with type O blood?

AB X OO
A B
O AO BO

O AO BO

Children would be type A or B only

Application of Genetics section starts here.
Pedigrees
• Graphic representation of how a trait is
passed from parents to offspring
• Tips for making a pedigree
1. Circles are for females
2. Squares are for males
3. Horizontal lines connecting a male and a
female represent a marriage
4. Vertical line and brackets connect parent
to offspring
5. A shaded circle or square indicates a
person has the trait
6. A circle or square NOT shaded represents
an individual who does NOT have the trait
7. Partial shade indicates a carrier –
someone who is heterozygous for the trait
 Practice Making a Pedigree
• Example: Make a pedigree chart for the following
couple. Dana is color blind; her husband Jeff is not.
They have two boys and two girls.
HINT: Colorblindness is a recessive sex-linked trait.
• Example: Make a pedigree chart for the following
couple. Dana is color blind; her husband Jeff is not.
They have two boys and two girls.
HINT: Colorblindness is a recessive sex-linked trait.
XnXn XNY

Has trait Can pass trait to

offspring
 Polygenic Inheritance
Polygenic trait - a trait
that is controlled by 2
or more genes.
Examples: height, hair
color, eye color, skin
color,
 Gene linkage
Gene linkage - Linked genes sit close together on a
chromosome, making them likely to be inherited together (left).
Genes on separate chromosomes are never linked (center).
But not all genes on a chromosome are linked. Genes that are
farther away from each other are more likely to be separated
during a process called homologous recombination (right).
Ex; Red hair and freckles
 Pleiotropy
Pleiotropy - when one gene mutation results in two or more
seemingly unrelated observable traits. For example,
phenylketonuria (PKU), is characterized by intellectual
disabilities and reduced skin and hair pigmentation.

A pleiotropic gene can have an effect on a variety of traits

because the gene affects more than one phenotype.
 Epistasis
Epistasis - describes a certain relationship
between genes, where an allele of one gene hides
or masks the visible output, or phenotype, of
another gene.
Epistasis is seen in the coat color of Labrador retrievers. -The
dominant allele E determines whether the coat will have dark
pigment
-Allele B determines how dark the coat will be.
-When a dog has recessive ee alleles, the coat will be yellow.
 Chi Squared
Chi Squared (χ2) test - a statistical test used to determine if
the expected results are statistically valid when compared to
the observed results.
It allows us to test for deviations of observed frequencies from
expected frequencies.
Karyotypes Detect Genetic Disorders
• karyotype - a picture of an individual’s chromosomes. It
can be used to diagnose chromosomal disorders.
○ autosome - a chromosome that is not directly
involved in determining the sex of the individual.
○ sex chromosome - a chromosome that is directly
involved in determining the sex of the individual.
• Examples:
Down’s syndrome – (Trisomy 21) 47 chromosomes,
extra chromosome at pair #21
Klinefelter’s syndrome – 47 chromosomes, extra X
chromosomes (XXY)
Boys affected – low testosterone levels, underdeveloped
muscles, sparse facial hair
 2018-2019
BIOLOGY STOPS
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Mutations
• Mutation – sudden genetic change (change in base pair
sequence of DNA)
• Can be :
Harmful mutations – organism less able to survive:
genetic disorders, cancer, death
Beneficial mutations – allows organism to better
survive: provides genetic variation
Neutral mutations – neither
harmful nor helpful to organism
• Mutations can occur in 2 ways:
chromosomal mutation or
gene/point mutation
Chromosomal mutation:
• less common than a gene mutation
• more drastic – affects entire chromosome, so affects
many genes rather than just one
• caused by failure of the homologous chromosomes to
separate normally during meiosis
• chromosome pairs no longer look the same – too few or
too many genes, different shape
Turner’s syndrome – only 45 chromosomes, missing a
sex chromosome (X)
Girls affected – short, slow growth, heart problems
Gene or Point Mutation
• most common and least drastic
• only one gene is altered
• Having an extra set of chromosomes is fatal in animals,
but in plants it makes them larger and hardier.

Hardier
• Examples:
Recessive gene
mutations:
Sickle cell anemia – red
blood cells are sickle
shaped instead of round
and cannot carry enough
oxygen to the body tissues
– heterozygous condition
protects people from
malaria
Cystic fibrosis – mucous builds up
in the lungs

Tay-Sachs Disease – deterioration

of the nervous system – early
death
Mutated genes produce enzymes that are less
effective than normal at breaking down fatty
cell products known as gangliosides. As a
result, gangliosides build up in the lysosomes
and overload cells. Their buildup ultimately
causes damage to nerve cells.
Phenylketonuria (PKU) – an amino
acid common in milk cannot be
broken down and as it builds up it
causes mental retardation –
newborns are tested for this

Dominant gene mutations:

Huntington’s disease – gradual
deterioration of brain tissue,
shows up in middle age and is fatal

Dwarfism – variety of skeletal

abnormalities