Genetics Notes

Who is Gregor Mendel? “Father of Genetics”

Law of Dominance- When one trait
will mask the other of a gene and it
will not physically show!

Principle of Independent
Assortment – Inheritance of
one trait has no effect on the
inheritance of another trait
 Law of Segregation
When an organism
makes gametes,
each gamete
receives just one
gene copy, which
is selected
randomly.
 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 the male – 23 in sperm
One set from female – 23 in egg
• One pair of Homologous Chromosomes:
Gene for eye color on the
same loci (blue eyes)

Homologous pair
of chromosomes

Gene for eye color on the

same loci (brown eyes)
Alleles – different forms (possibilities) for the same gene –
ex: blue eyes or brown eyes or hazel eyes or
green eyes or…..
Dominant and Recessive Alleles
• Allele that prevents the other gene from “showing” –
dominant
• Allele 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 alleles—

No S = straight, h = hitchhiker’s)

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
• Combination of genes an organism has (actual gene
makeup) – genotype
Ex: TT, Tt, tt
• Physical appearance resulting from gene make-up –
phenotype
Ex: hitchhiker’s thumb or straight thumb
Punnett Square and Probability
• Used to predict the possible gene makeup of offspring –
Punnett Square
• 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

75% black : 25% 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
 Probability- the chance a given event will occur

If you flip a coin, what is the probability that it will

land HEADS UP?
½ or 50%

What’s the probability it will land heads up 3 times

in a row?
½ X ½ X ½ =⅛ OR
.5 X .5 X .5 = .125 or 12.5%
BUT…. what about more than one trait?
 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.

Possible gametes:
BbHh X BbHh
BH BH Gametes BH Bh bH bh
Bh Bh
bH bH
BH BBHH BBHh BbHH BbHh
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.)
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 Inheritance
• Genes for these traits are
located only on the X
chromosome (NOT on the Y
chromosome)
• X linked alleles always show
up in males whether
dominant or recessive
because males have only
one X chromosome
• 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
X N X NX N X NX n

Y X NY X nY
Phenotype: 2 normal vision females
1 normal vision male
1 colorblind male
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 (R’). 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.
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

Polygenic inheritance is when more that ONE GENE that
codes for a protein to display a trait.
Examples are Eye color; gene 1 pigment color or iris , gene 2 the
color of the rim of the iris, gene 3 fleck of pigment
 explanation demo

Sandra Laing (born 1955) is a South

African woman notable for appearing as
and being classified as "coloured" by
authorities during the apartheid era,
due to her Skin colour and hair texture,
although she was the child of at least
three generations of white ancestors. At
the age of 10, she was expelled from her
all-white school, and the authorities'
decisions based on her anomalous
appearance disrupted her family and
adult life.
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
• 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.
X nX n X NY

Has trait Can pass trait to

offspring
Autosomal dominant or autosomal
recessive
Autosomal dominant or autosomal
recessive
Or Autosomal
Sex linked or Autosomal
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
Gene or Point Mutation
• most common and least drastic
• only one gene is altered
• 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
Detecting Genetic Disorders
• picture of an individual’s chromosomes – karyotype
• amniotic fluid surrounding the embryo is removed for
analysis – amniocentesis

Female with Down’s syndrome

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
• Examples:
Down’s syndrome – (Trisomy 21) 47 chromosomes,
extra chromosome at pair #21
Turner’s syndrome – only 45 chromosomes, missing a
sex chromosome (X)
Girls affected – short, slow growth, heart problems
Klinefelter’s syndrome – 47 chromosomes, extra X
chromosomes (XXY)
Boys affected – low testosterone levels, underdeveloped
muscles, sparse facial hair
• Having an extra set of chromosomes is fatal in animals,
but in plants it makes them larger and hardier.

Hardier