Genetics Powerpoint

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

teacher of teachers
Principle of Independent Assortment – Inheritance of one
trait has no effect on the inheritance of another trait
What is genetics?
• the study of transmission of body feature from
parents to offspring and the laws relating to
such transmission.(Study of heredity)
the term heridity may be defined as the

transmission of genetically based characterist
from parents to offspring.
Traits
• Genetics – study of how traits are passed from parent
to offspring
Any heritence feature is

character
The alternative forms of

characters are traits.
• 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 Genes
• 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 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
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

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 – linked Traits
• 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
XN XN XN XN Xn
Y XN Y XnY
Phenotype: 2 normal vision females
1 normal vision male
1 colorblind male
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.
XnXn XN Y
Has trait Can pass trait to

offspring
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

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
• 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
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

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Genetics Notes

Who is Gregor Mendel? “Father of Genetics”

the term heridity may be defined as the

Any heritence feature is

The alternative forms of

Gene for eye color

Alleles – different genes (possibilities) for the same trait –

(Always use the same letter for the same alleles—

• One dominant and one recessive gene –

Black fur (B) White fur (b)

White fur (b) White fur (b)

Write the ratios in the following orders:

Phenotypic ratio = 3 black : 1 white

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

Chance of having female baby? 50%

Who determines the sex of the child? father

You should see 58

Has trait Can pass trait to

Children would be type A or B only

Tay-Sachs Disease – deterioration

Dominant gene mutations:

Dwarfism – variety of skeletal

Female with Down’s syndrome

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