Unit 2: Genetics

By: Ms. Al Hafi

 Breakdown of genetics Unit:
1. Mitosis And Cell Cycle
2. Meiosis
3. Punnett squares (monohybrid and dihybrid)
4. Pedigrees
5. Genetics Mutations and disorders
Chapter 1: Cell Cycle and Mitosis
Cell Cycle (First Part of Asexual Reproduction)
Steps:

● G1 Phase
● S Phase
● G2 Phase
● Mitosis
● Cytokinesis
Mitosis Step 1: Prophase
The first step of mitosis
• Cell prepares for division
• The chromatin is packed together to form
chromosomes
• Centrioles begin to move to opposite ends
of
the cell
• Spindle fibres begin to form from the
centrioles.
• The nuclear membrane starts to
disintegrate
Mitosis Step 2: MEtaphase
The second step of mitosis

• Chromosomes line up along the

middle of the cell known as the

metaphase plate with the help of the

spindle fibres from the centrioles

• The nuclear membrane is not visible

during this phase

Mitosis 3: Anaphase
• The third step of mitosis
• Identical halves of each
chromosome are pulled towards
opposite ends of the cell
• Identical halves of a chromosome
are called sister chromatids.
• The nuclear membrane is not
visible during this phase
Mitosis: telophase
• The fourth and last step of mitosis

• The chromosomes are at opposite

poles

• The nuclear membrane reforms around

the

chromosomes (common nuclear envelope)

• The cell begins to pinch inwards to

start

forming two separate daughter cells

cytokinesis

● Occurs at the end of cell division. Divides the cytoplasm

into two separate cells.

● The cell membrane pinches inward between the two nuclei

and forms 2 daughter cells.
Test Your Knowledge
Homework
Mitosis Handout
Chapter 2: Meiosis
What is meiosis and why?
- A form of sexual reproduction
- Occurs in germ cells only (sex cells: sperm and egg)
- Humans are DIPLOID: 23 pairs of chromosomes
- Sex cells are HAPLOID: contain 1 set of 23
chromosomes
- Fertilization of two SEX CELLS (sperm and egg) create
one ZYGOTE that is DIPLOID •
- Sexual reproduction creates a zygote that is
genetically different than both its parents
Vocabulary You Need to Know!
● Chromatid
● Chromatin
● Sister Chromatids
● Chromosomes
● Homologous Chromosomes
● Tetrad
● Centromere
● Daughter Cell
● Parent Cell
● Haploid
● Diploid
● Crossing Over
● Genetic Recombination
● Independent Assortment
 Diploid vs Haploid
Diploid

● 2 copies of each chromosome

● All our body cells are diploid
● 2n

Haploid

● one copy of each chromosome

● Our sex cells (sperm, egg)are haploid
● 1n

*n= number of copies of chromosome*

MEIOSIS AND CROSSING OVER
● Each synapsis is made
up of 2 pairs of sister
chromatids

● This matched set of 4

chromatidsis called a
tetrad
Crossing over further increases genetic variability
● Crossing over is the exchange of corresponding
segments between two non-sister chromatids of
homologouschromosomes
● Genetic recombination results from crossing over
during prophase I of meiosis → This increases
variation further
How crossing over leads to genetic
recombination
● Nonsister chromatids break in
two at the same spot
● The 2 broken chromatids join
together in a new way
● A segment of one chromatidhas
changed places with the
equivalent segment of its
nonsister homologue
● If there were no crossing over
meiosis could only produce 2
types of gametes
Independent Assortment
During Anaphase II – Homologous chromosomes and/or sister
chromatids are randomly assigned to each daughter cell
Why is Meiosis Important?
- First and foremost it allows for genetic variability
- This is the most important part of Meiosis. You get
chromosomes from both parents. This is what allows
you to be different from your parents or siblings.
- Genetic variability means that everythingisn’t a
clone of the next
- It helps maintain the chromosomenumber in species
- Meiosis can play a part in evolution (via natural
selection)
- The MULE
Real life application: dolly the sheep

https://www.google.com/url?sa=i&url=https%3A%2F%2Fdolly.roslin.ed.ac.uk%2Ffacts%2Fthe-life-of-dolly%2Findex.html&psig=AOvVaw1gxnKb19VPvV
TjRihZ_eiP&ust=1701782718706000&source=images&cd=vfe&opi=89978449&ved=0CBQQjhxqFwoTCICAhejw9YIDFQAAAAAdAAAAABAE
Homework
Mitosis Handout (not marked)

Meiosis page 181, #1,4-6, page 174, #2,3,9

MEIOSIS
Meiosis stages
There is Meiosis I and II
 Meiosis
• The form of cell division by which gametes, with
half the number of chromosomes, are produced.

• Diploid (2n) → haploid (n)

• Meiosis is sexual reproduction.

• Two divisions (meiosis I and meiosis II).

 Fertilization
• The fusion of a sperm and egg to form a zygote.
• A zygote is a fertilized egg
sperm
n=23 n=23
egg

2n=46
zygot
 Meiosis
• Sex cells divide to produce gametes (sperm or
egg).
• Gametes have half the # of chromosomes.
• Occurs only in gonads (testes or ovaries).
Male: spermatogenesis
Female: oogenesis

• Meiosis is similar to mitosis with some

chromosomal differences.
Spermatogenesis
n=2
human 3
sex cell n=23 sper
n=2 m
2n=46 3
haploid (n)
n=23 n=2
diploid (2n) 3
n=2
meiosis meiosis
3
Meiosis – mouse testes
Parent cell
1st division

2nd division
4 gametes
 Interphase I
• Similar to mitosis interphase.

• Chromosomes replicate (S phase).

• Each duplicated chromosome consist of two

identical sister chromatids attached at their
centromeres.

• Centriole pairs also replicate.

 Interphase I
• Nucleus and nucleolus visible.
Chromatin nuclear
membrane

cell membrane

Nucleolus
 Meiosis I (four phases)
• Cell division that reduces the chromosome
number by one-half.

• four phases:
a. prophase I
b. metaphase I
c. anaphase I
d. telophase I
 Prophase I
• Longest and most complex phase (90%).
• Chromosomes condense.
• Synapsis occurs: homologous chromosomes
come together to form a tetrad.
• Tetrad is two chromosomes or four
chromatids (sister and nonsister chromatids).
 Prophase I - Synapsis
Homologous chromosomes

sister chromatids sister chromatids

Tetrad
 Homologous Chromosomes
• Pair of chromosomes (maternal and paternal) that are similar
in shape and size.
• Homologous pairs (tetrads) carry genes controlling the same
inherited traits.
• Each locus (position of a gene) is in the same position on
homologues.
• Humans have 23 pairs of homologous chromosomes.

a. 22 pairs of autosomes
b. 01 pair of sex chromosomes
 Karyotype
• A method of organizing the chromosomes of a
cell in relation to number, size, and type.
Homologous Chromosomes
eye color eye color
locus locus

hair color hair color

locus locus
Paternal Maternal
Another Way Meiosis Makes Lots of
Different Sex Cells – Crossing-Over

Crossing-over multiplies the already huge number of

different gamete types produced by independent
Humans have 23 Sets of Homologous Chromosomes
Each Homologous set is made up of 2 Homologues.
Homologue
Karyotype

Homologue
 Autosomes
(The Autosomes code for most of the offspring’s traits)

In Humans the
“Autosomes”
are sets 1 - 22
21 trisomy – Downs Syndrome

Can you see the

extra 21st
chromosome?

Is this person
male or female?
 NonDisjunction (errors in independent
assortment)
Types of errors:
- Significant changes in the physical structure of
chromosomes can occur either spontaneously or when
cells are irradiated or exposed to certain
chemicals. Essentially, there are four means by
which these changes can happen: deletion,
duplication, inversion, and translocation,
Nondisjunction 4 errors
 Sex Chromosomes
The Sex Chromosomes code for the sex of the offspring.
** If the offspring has two “X” chromosomes it will be a female.
** If the offspring has one “X” chromosome and one “Y” chromosome it will be
a male.

In Humans the
“Sex
Chromosomes” are
the 23rd set

XX chromosome - female XY chromosome - male

 Boy or Girl? The Y Chromosome
“Decides”

Y
X chromoso
chromoso me
 Crossing Over
• Crossing over (variation) may occur between
nonsister chromatids at the chiasmata.
• Crossing over: segments of nonsister
chromatids break and reattach to the other
chromatid.
• Chiasmata (chiasma) are the sites of crossing
over.
 Crossing Over - variation
nonsister chromatids Tetra
d

chiasmata: site of crossing over variation

 Prophase I
spindle centriol
fiber es
aster
fiber
s
 Metaphase I
• Shortest phase
• Tetrads align on the metaphase plate.
• INDEPENDENT ASSORTMENT OCCURS:
1. Orientation of homologous pair to poles is random.
2. Variation
3. Formula: 2n
Example:2n = 4
then n = 2
thus 22 = 4 combinations
 Metaphase I

O
R

metaphase plate metaphase plate

 Question:
• In terms of Independent Assortment
-how many different combinations of
sperm could a human male produce?
 Answer
• Formula: 2n
• Human chromosomes: 2n = 46
n = 23

• 223 = ~8 million combinations

 Anaphase I
• Homologous chromosomes separate and
move towards the poles.

• Sister chromatids remain attached at their

centromeres.
Anaphase I
 Telophase I
• Each pole now has haploid set of
chromosomes.

• Cytokinesis occurs and two haploid daughter

cells are formed.
Telophase I
 Meiosis II
• No interphase II
(or very short - no more DNA replication)

• Remember: Meiosis II is similar to mitosis

 Prophase II
• same as prophase in mitosis
 Metaphase II
• same as metaphase in mitosis

metaphase metaphase
 Anaphase II
• same as anaphase in mitosis
• sister chromatids separate
 Telophase II
• Same as telophase in mitosis.
• Nuclei form.
• Cytokinesis occurs.

• Remember: four haploid daughter cells

produced.

gametes = sperm or egg

Telophase II
 Meiosis
n=2
sex cell sper
n=2 n=2 m
2n=
haploid (n)
4 n=2
diploid (2n) n=2
n=2
meiosis I meiosis II
 Variation
• Important to population as the raw
material for natural selection.

• Question:
What are the three sexual sources of
genetic variation?
 Answer:
1. crossing over (prophase I)

2. independent assortment (metaphase I)

3. random fertilization

Remember: variation is good!

 Question:
• A cell containing 20 chromosomes (diploid)
at the beginning of meiosis would, at its
completion, produce cells containing how
many chromosomes?
 Answer:
• 10 chromosomes (haploid)
 Question:
• A cell containing 40 chromatids at the
beginning of meiosis would, at its completion,
produce cells containing how many
chromosomes?
 Answer:
• 10 chromosomes
 Homework
Textbook page 230, #1&2, 159#12, 174 #10,11
Part 2: Punnet squares and Pedigrees
 Genetics Notes
Who is Gregor Mendel? “Father of Genetics”

Principle of Independent Assortment – Inheritance of one

trait has no effect on the inheritance of another trait
 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 Genes
• Gene that prevents the other gene from “showing” –
dominant allele
• Gene that does NOT “show” even though it is present –
recessive
• Symbol – Dominant gene – upper case letter – T
Recessive gene – lower case letter – t

Dominant Recessive
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 * Must have 2 recessive alleles

Straight thumb = Tt for a recessive trait to “show”
Hitchhikers thumb = tt
• 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
BB Tt – heterozygous
– 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)
Possible offspring – 2N
Male gametes - N
(One gene in
sperm)

Write the ratios in the following orders:

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

Genotypic ratio = 25%:50%:25%

Phenotypic ratio = 3 Hair: 1 Bald
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
Homework
Punnet Square Handout
 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 BBHH BBHh BbHH BbHh
bh bh
BH
Phenotypes - 9:3:3:1 BBHh BBhh BbHh Bbhh
Bh
9 black and straight
3 black and curly BbHH BbHh bbHH bbHh
bH
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:
100% black and straight
BH BBHH BBHh

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
Beard hair is a Y-Linked Trait. A cross between
Mother XX with dad XY^b
 • 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 X NX N X NX n

Y X NY X nY
Phenotype: 2 normal vision females
1 normal vision 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

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
Pedigree Cheat Sheet
• 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.

Has trait Can pass trait to

offspring
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
 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
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