U4 Lesson 8-14 Lesson 8-14 Inheritance

Grade 10
Unit 4
Lesson 8-14: Inheritance
Mendel’s peas
Lesson 8:
Mendelian
genetics
Gregor Mendel
Punnet squares
Monohybrid crosses
Definitions This image shows a pair of homologous chromosomes.
Name and annotate the labeled features.
Genotype
The combination of alleles Homozygous dominant
of a gene carried by an organism Having two copies of the same
dominant allele
Phenotype
The expression of alleles Homozygous recessive
of a gene carried by an organism Having two copies of the same
recessive allele. Recessive alleles are
Centromere only expressed when homozygous.
Joins chromatids in cell division
Codominant
Alleles Pairs of alleles which are both
Different versions of a gene expressed when present.
Dominant alleles = capital letter
Recessive alleles = lower-case letter Heterozygous
Having two different alleles.
The dominant allele is expressed.
Carrier Gene loci

Heterozygous carrier of a Specific positions of genes on a
recessive disease-causing allele chromosome
Sexual reproduction recap
Many eukaryotes reproduce by sexual reproduction. To prevent a doubling of chromosomes in
each generation a halving mechanism is needed during the life cycle.
The new diploid organism

has two alleles for each
gene again.
Fertilisation involves the

fusion of gametes to During meiosis,
create a dipoid zygote. chromosomes from parent
cells are halved to create
gametes (sex cells).
Gametes have only one allele

for each gene.
http://www.biologycorner.com/resources/diploid_life_cycle.gif
Mendel’s principles of inheritance
Johann Gregor
Mendel
(1822-1884)
• Because of his work with pea plants Mendel is considered the father of modern genetics.
• He planted 1000s of seeds per trial and carried out many trials to be sure of his results.
• His published work (1865) is now considered important, but at the time was ignored for 30 years.
Punnet squares
Mendel crossed some yellow peas with some yellow peas.

Most offspring were yellow but some were green!
Explain this!
Punnet squares
The yellow parent peas must be heterozygous. The yellow phenotype is expressed, because it is
dominant.
Through meiosis and fertilisation, some offspring peas received a recessive allele from both parents
and are homozygous recessive – they got a green colour.
Note that Mendel did not know about

DNA, chromosomes or meiosis.
Through his experiments he did work out

that ‘heritable factors’ (genes) were passed
on and that these could have different
versions (alleles).
Monohybrid Cross Crossing a single trait.
F0 Key to alleles:
Y = yellow
y = green
Genotype: Yy Yy
Alleles segregate during meiosis
(anaphase I) and end up in different
Gametes: Y or y Y or y haploid gametes.
Punnet Grid: gametes
Use simplified notation of using

upper case for dominant and lower
case for recessive in the case of two
Genotypes:
F1 Phenotypes:
alleles without co-dominance.
Phenotype ratio:
F0 Key to alleles:
Y = yellow
y = green
Genotype: Yy Yy
Punnet Grid: Fertilisation results in diploid zygotes.

gametes
A punnet grid can be used to deduce

the potential outcomes of the cross and
to calculate the expected ratio of
phenotypes in the next generation (F 1).
Genotypes:
F1 Phenotypes:
Phenotype ratio:
F0 Key to alleles:
Y = yellow
y = green
Genotype: Yy Yy
Punnet Grid: gametes Y y Fertilisation results in diploid zygotes.

Y YY Yy the potential outcomes of the cross
and to calculate the expected ratio of
phenotypes in the next generation
y Yy yy (F1).
Genotypes:
F1 Phenotypes:
Phenotype ratio:
F0 Key to alleles:
Y = yellow
y = green
Genotype: Yy Yy Alleles segregate during meiosis
Fertilisation results in diploid zygotes.

Punnet Grid: gametes Y y
Y YY Yy the potential outcomes of the cross and
to calculate the expected ratio of
phenotypes in the next generation (F1).
y Yy yy
Yy yy Ratios are written in the simplest
Genotypes: YY Yy
F1 Phenotypes:
mathematical form.
Phenotype ratio: 3:1

Practice 1 What is the expected ratio of phenotypes
in this monohybrid cross?
F0 Phenotype:
Key to alleles:
Y = yellow
y = green
Genotype:
Homozygous recessive Homozygous recessive
Genotypes:
F1 Phenotypes:
Phenotype ratio:
F0 Phenotype:
Key to alleles:
Y = yellow
y = green
Genotype: yy yy
Homozygous recessive Homozygous recessive
Punnet Grid: gametes y y

y yy yy
y yy yy
Genotypes: yy yy yy yy
F1 Phenotypes:
Phenotype ratio: All green

F0 Phenotype:
Key to alleles:
Y = yellow
y = green
Genotype:
Homozygous recessive Heterozygous
Genotypes:
F1 Phenotypes:
Phenotype ratio:
F0 Phenotype:
Key to alleles:
Y = yellow
y = green
Genotype: yy Yy
Homozygous recessive Heterozygous

y Yy yy
y Yy yy
Genotypes: Yy Yy yy yy
F1 Phenotypes:

F0 Phenotype:
Key to alleles:
Y = yellow
y = green
Genotype:
Homozygous dominant Heterozygous
Genotypes:
F1 Phenotypes:
Phenotype ratio:
Practice 3 What is the expected ratio of phenotypes in
this monohybrid cross?
F0 Phenotype:
Key to alleles:
Y = yellow
y = green
Genotype: YY Yy
Homozygous dominant Heterozygous

Y YY Yy
Y YY Yy
Genotypes: YY YY Yy Yy
F1 Phenotypes:
Phenotype ratio: All yellow

Lesson 9:
Pedegree charts
•Pedegree charts
•Cystic fibrosis
•Huntington’s disease
Key to alleles:
Pedigree Charts T = Normal allele
t = mutated allele
Pedigree charts can be used to trace family histories and deduce genotypes
and risk in the case of inherited gene-related disorders.
Here is a pedigree chart for this family history. Key: female male
affected
Not
Affected
Deceased
Looks like
Deduce the genotypes

of these individuals: A&B C D
Genotype
Reason
Edited from: http://www.slideshare.net/gurustip/theoretical-genetics
Key to alleles:
t = mutated allele
Pedigree charts can be used to trace family histories and deduce genotypes
and risk in the case of inherited gene-related disorders.
Here is a pedigree chart for this family history. Key: female male
affected
Not
Affected
Deceased
Looks like
Deduce the genotypes

of these individuals: A&B C D
Genotype Both Tt tt Tt
Recessive traits only To have produced affected
Trait is recessive, as both
Reason are normal, yet have produced
an affected child (C)
expressed when
homozygous.
child H, D must have inherited
a recessive allele from either A
or B
Key to alleles:
t = mutated allele
Individuals D and $ are planning to have another child.
Calculate the chances of the child having CF.
Key: female male
affected
Not
$ Affected
Deceased
Looks like
Genotypes:
Gametes
D=
Phenotype ratio
$= Therefore

Key to alleles:
t = mutated allele
Individuals D and $ are planning to have another child.
Calculate the chances of the child having CF.
Key: female male
affected
Not
$ Affected
Deceased
Looks like
Genotypes:
D = Tt (carrier)
Gametes
T t
Phenotype ratio
t Tt tt 1 : 1 Normal : CF
$ = tt (affected)
Therefore 50% chance of a
t Tt tt child with CF

Cystic Fibrosis (CF)
A mutation in the CFTR gene causes secretions (e.g. mucus, sweat and digestive juices) which are usually thin
instead become thick. Instead of acting as a lubricant, the secretions block tubes, ducts and passageways,
especially in the lungs and pancreas. Despite therapeutic care lung problems in most CF sufferers leads to a early
death (life expectancy is between 35 and 50 years).
Pedigree charts can be used to trace family histories and deduce genotypes and risk in the case
of inherited gene-related disorders. Here is a pedigree chart for this family history.
Key: female male

I
affected
Not
II Affected
A B Deceased
III
?
Is CF dominant or recessive? How do you know?
•
•

Pedigree charts can be used to trace family histories and deduce genotypes and risk in the case
of inherited gene-related disorders. Here is a pedigree chart for this family history.
Key: female male

I
affected
Not
II Affected
A B Deceased
III
?
Is PKU dominant or recessive? How do you know?
• Recessive
• Unaffected mother in Gen I has produced affected II
A. Mother must have been a carrier.
What is the probability of two parents who are both carriers of the recessive allele producing
children affected by CF?
F0 Phenotype: carrier carrier

Key to alleles:
T = Normal allele
t = mutated allele
Genotype: Tt Tt
Punnet Grid: gametes T t

T
t
Genotypes:
F1 Phenotypes:
Phenotype ratio:
What is the probability of two parents who are both carriers of the recessive allele producing
children affected by CF?
F0 Phenotype: carrier carrier

Key to alleles:
T = Normal allele
Tt t = mutated allele
Genotype: Tt

T TT Tt
t Tt tt
Genotypes: TT Tt Tt tt Therefore 25% chance
F1 Phenotypes: Normal CF
of a child with CF

Huntington’s Disease (HD)
Huntington's Disease (HD) is a brain
disorder that affects a person's ability to
think, talk, and move. HD is caused by a
mutation in a gene on chromosome 4.
Genetics review:
1. Is this a dominant or recessive
condition?
2. Is this disorder autosomal or sex-linked
3. Produce a punnett square to explain the

inheritance pattern in the diagram.
Huntington’s Disease (HD)
Huntington's Disease (HD) is a brain
disorder that affects a person's ability to
think, talk, and move. HD is caused by a
mutation in a gene on chromosome 4.
Genetics review:
1. Is this a dominant or recessive
condition?
Dominant – individuals are affected with
only a single mutated allele.
2. Is this disorder autosomal or sex-linked

Autosomal – chromosome 4
3. Produce a Punnett grid to explain the

inheritance pattern in the diagram.
[Next slide]

Huntington's Disease (HD)
What is the probability of an unaffected mother and a heterozygous affected father (for HD)
producing children affected by HD?
F0 Phenotype: normal affected

Key to alleles:
T = mutated allele
t = normal gene
Genotype: tt Tt

t
t
Genotypes:
F1 Phenotypes:
Phenotype ratio:
Huntington's Disease (HD) Clinical example.
What is the probability of an unaffected mother and a heterozygous affected father (for HD)
producing children affected by HD?
F0 Phenotype: normal affected

Key to alleles:
T = mutated allele
t = normal gene
Genotype: tt Tt

t Tt tt
t Tt tt
Therefore 50% chance
Genotypes: Tt Tt tt tt
F1 Phenotypes: HD Normal
of a child with HD

Lesson 10:
Sex-linked
traits
Sex-linked
Colour blindness
Hemophilia
Sex Linkage X and Y chromosomes are non-homologous.
What number do you see?
5 = normal vision
2 = red/green colour blindness
Chromosome images from Wikipedia:

http://en.wikipedia.org/wiki/Y_chromosome
The sex chromosomes are non-homologous. There are

many genes on the X-chromosome which are not Non-homologous
present on the Y-chromosome. region
Non-homologous
region
http://www.angleseybonesetters.co.uk/bones_DNA.html
Edited from: http://www.slideshare.net/gurustip/theoretical-genetics http://en.wikipedia.org/wiki/Y_chromosome

Question:
Wait, how can men even be
complete, if the Y chromosome
is missing so many genes?
Non-homologous
region

Sex-linked traits are those which are carried on the X-chromosome
in the non-homologous region. Alleles in this regions are expressed whether
they are dominant or recessive, as there is no
alternate allele carried on the Y chromosome.
Therefore sex-linked genetic disorders are
more common in males.
Non-homologous
region
Examples of sex-linked genetic disorders:

- Colour blindness
- Hemophilia
How is colour-blindness inherited?
The red-green gene is carried at locus Xq28.

This locus is in the non-homologous region, so
there is no corresponding gene (or allele) on the
Y chromosome.
Normal vision is dominant over colour-blindness.
X X N
Questions: N
X Y
N no allele carried, none written
Colour blindness is a recessive sex-liked disorder. This means that you are colour blind if you have no
dominant
Normal female
allele present in your genotype.
Normal male For this question, the dominant allele of colour blindness on
the X chromosome is represented by the letter XKey N
. to alleles:
1. How should the recessive allele be written? N = normal vision Xq28
X X
2. What
Tip: homozygous
Affected female dominant.
X Y
n is then genotype of a healthy
n
Affected male
female thatn =does
red/green colour
not carry
blindness
the allele for colour blindness?
3. What is the genotype of a healthy female that does carry the allele for colour blindness?
Tip: heterozygous.
X X N is thengenotype
4. What Human females
of a female that iscan beblind?
colour homozygous or recessive.
Tip: homozygous
5. How would you write heterozygous
the genotype ofwith respect
a male to sex-linked
that is colour blind? genes.
6.Carrier
And female
of a male thatHeterozygous
is not color blind?females are carriers.

Y chromosome.
X X N
Questions: N
X Y
N no allele carried, none written
Colour blindness is a recessive sex-liked disorder. This means that you are colour blind if you have no
dominant
Normal female
allele present in your genotype.
Normal male For this question, the dominant allele of colour blindness on
the X chromosome is represented by the letter XKey N
. to alleles:
1. How should the recessive allele be written? XNn = normal vision Xq28
X X
2. What
Tip: homozygous
Affected female dominant.
X Y
n is then genotype of a healthy
n
XN Xmale
Affected
N
female thatn =does
red/green colour
not carry
blindness
the allele for colour blindness?
3. What is the genotype of a healthy female that does carry the allele for colour blindness?
Tip: heterozygous. XN Xn
X X N is thengenotype
4. What Human females
of a female that iscan beblind?
colour homozygous or recessive. Xn Xn
Tip: homozygous
5. How would you write heterozygous
the genotype of with respect
a male to sex-linked
that is colour blind? Xn Ygenes.
6.Carrier
And female
of a male thatHeterozygous
is not color blind?females
XN Y are carriers.

Y chromosome.
X XN N
Normal female
X YN
Normal male
no allele carried, none written
Key to alleles:
N = normal vision Xq28
X X n n
Affected female
X Yn
Affected male
n = red/green colour
blindness Chromosome images from Wikipedia:
X XN n Human females can be homozygous or

heterozygous with respect to sex-linked genes.
Carrier female Heterozygous females are carriers.
Key to alleles:
What chance of a colour-blind child in the cross between a
normal male and a carrier mother? N = normal vision
F0 Genotype:
XN Xn XN Y
blindness
Phenotype: Carrier female X Normal male
Punnet Grid:
F1

Key to alleles:
F0 Genotype:
XN Xn XN Y
blindness
Punnet Grid:
XN Y
XN
F1
Xn

Key to alleles:
F0 Genotype:
XN Xn XN Y
blindness
Punnet Grid:
XN Y
N XN XN
X XN Y
F1
X n X X Xn
Y
N n

Key to alleles:
F0 Genotype:
X XN n
X Y N
blindness
Punnet Grid:
X Y N
N XN XN
X X Y
N
Normal female Normal male
F1
X n X X X YN n
Carrier female
n
Affected male
There is a 1 in 4 (25%)
chance of an affected child.
Key to alleles:
F0 Genotype:
X XN n
X Y N
blindness
Punnet Grid:
X Y N
N XN XN
X X Y
N
Normal female Normal male
F1
X n X X X YN n
Carrier female
n
Affected male
There is a 1 in 4 (25%)
chance of an affected child.
What ratios would we expect in a cross between: Chromosome images from Wikipedia:
a. A colour-blind male and a homozygous normal female? http://en.wikipedia.org/wiki/Y_chromosome
b. A normal male and a colour-blind female?

Hemophilia
Hemophilia Another sex-linked disorder.
Blood clotting is an example of a metabolic pathway –

a series of enzyme-controlled biochemical reactions.
It requires globular proteins called clotting factors.

A recessive X-linked mutation in hemophiliacs results in one of these
factors not being produced. Therefore, the clotting response to
injury does not work and the patient can bleed to death.
X XH
Normal female
H
X YH
Normal male
no allele carried, none written
Key to alleles:
XH = healthy clotting factors
X Xh h
Affected female
X Yh
Affected male
Xh = no clotting factor
Human females can be homozygous or

X XH h
Carrier female
heterozygous with respect to sex-linked genes.
Heterozygous females are carriers.
Lesson 11:
Other non-mendelian
traits
•Incomplete dominance
•Co-dominance
•Polygenic traits
•Epistasis
Incomplete dominance
Co-dominance
Polygenetic trait
Epistasis
Lesson 12:
Chromosomal
abnormalities
Karyotypes and non-disjunction
Down syndrome
Klinefelter syndrome
Karyotype and non-disjunction
Down syndrome
Question:
• Trisomy 21: extra copy of Why are there people with
chromosome 21 trisomy 21, but not with
• Physical symptomes monosomy 21?
• Decreased muscle tone
• Specific physical appearance: flattened
face, short neck, small and wide hands,
toe groove, white eye spots, etc.
• Developmental symptoms
• Short attention span
• Poor judgment
• Impulsive behavior
• Slow learning
• Delayed language and speech
development
Klinefelter syndrome
• Extra X chromosome
• Y chromosome present so sex of
people with XXY is genetically male
• Doesn’t always cause problems and
can be unnoticed
• Symptoms:
• Infertility
• Weak muscles and flexible joints
• Taller and less muscular body
• Low energy level
• Smaller or missing testicles
• Delayed or incomplete puberty
Lesson 13:
Biotechnology
Cloning
CRISPER
GMOs
Ethics
Activity: Producing human insuling
• Matching activity with step-by step method
• How are genetically modified bacteria used to produce human
insuline?
Extract
Cut
human
human
insulin
DNA
gene Insert
Combine Feed
recom- Select
human bacteria
binant recom-
gene with and
plasmid in binant
bacterial extract
bacterial bacteria
Extract Cut pasmid insulin
cells
bacterial bacterial
plasmids plasmids
Gene TransferRequires plasmids, a host cell, restriction enzymes and ligase.
E. coli bacteria contain small
Restriction enzymes ‘cut’ the
circles of DNA called
desired gene from the genome.
plasmids.
alternatively mRNA can treated with
reverse transcriptase to produce short
These can be removed.
DNA segments
The same restriction enzyme

cuts into the plasmid.
Because it is the same restriction enzyme
the same bases are left exposed, creating
‘sticky ends’
Ligase joins the sticky ends, fixing the

gene into the E. coli plasmid.
Fermenters are used
to produce large
The recombinant plasmid is inserted quantities of bacteria.
The human insulin is
into the host cell. It now expresses the
then separated from
new gene. An example of this is human the bacteria and
insulin production. purified.
http://www.slideshare.net/gurustip/genetic-engineering-and-biotechnology-presentation
Discussion
Genetically modified organisms should
Revision:
Pedigree chart practice
Dominant traits
Recessive traits
X-chromosomal traits
3.4.S3 Analysis of pedigree charts to deduce the pattern of inheritance of genetic diseases.
Hemophilia Pedigree chart practice
State the genotypes of the following family members:

1. Leopold
2. Alice
3. Bob was killed in a tragic croquet accident before

his phenotype was determined.
Key: female male

4. Britney
affected
Key to alleles: Not
H = healthy clotting factors Affected
h = no clotting factor
deceased
Royal Family Pedigree Chart from:
http://www.sciencecases.org/hemo/hemo.asp

1. Leopold
Xh Y
2. Alice

Key: female male

4. Britney
affected
Key to alleles: Not
deceased

1. Leopold
Xh Y
2. Alice
XH Xh

Key: female male

4. Britney
affected
Key to alleles: Not
deceased

1. Leopold
Xh Y
2. Alice
XH Xh

XH Y or Xh Y
Key: female male
4. Britney
affected
Key to alleles: Not
deceased

1. Leopold
Xh Y
2. Alice
XH Xh

XH Y or Xh Y
Key: female male
4. Britney
affected
XH XH or XH Xh
Key to alleles: Not
deceased
Pedigree Chart Practice

Key: female male
affected
Not
Affected
deceased
Dominant or Recessive? Autosomal or Sex-linked?


Key: female male
affected
Not
Affected
deceased

Dominant.
A and B are both affected but have produced
unaffected (D & F). Therefore A and B must have
been carrying recessive healthy alleles.
If it were recessive, it would need to be

homozygous to be expressed in A & B – and then
all offspring would be homozygous recessive.

Key: female male
affected
Not
Affected
deceased

Dominant. Autosomal.
A and B are both affected but have produced Male C can only pass on one X chromosome. If it
unaffected (D & F). Therefore A and B must have were carried on X, daughter H would be affected by
been carrying recessive healthy alleles. the dominant allele.
If it were recessive, it would need to be Tip: Don’t get hung up on the number of
homozygous to be expressed in A & B – and then individuals with each phenotype – each
all offspring would be homozygous recessive. reproductive event is a matter of chance. Instead
focus on possible and impossible genotypes.
Draw out the punnet grids if needed.

U4 Lesson 8-14 Lesson 8-14 Inheritance

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Grade 10

Carrier Gene loci

The new diploid organism

Fertilisation involves the

Gametes have only one allele

Mendel crossed some yellow peas with some yellow peas.

Note that Mendel did not know about

Through his experiments he did work out

Punnet Grid: gametes

Use simplified notation of using

Punnet Grid: Fertilisation results in diploid zygotes.

A punnet grid can be used to deduce

Punnet Grid: gametes Y y Fertilisation results in diploid zygotes.

A punnet grid can be used to deduce

Fertilisation results in diploid zygotes.

Phenotype ratio: 3:1

Homozygous recessive Homozygous recessive

Punnet Grid: gametes

Punnet Grid: gametes y y

Phenotype ratio: All green

Homozygous recessive Heterozygous

Punnet Grid: gametes

Punnet Grid: gametes Y y

Phenotype ratio: 1:1

Homozygous dominant Heterozygous

Punnet Grid: gametes

Punnet Grid: gametes Y y

Phenotype ratio: All yellow

Deduce the genotypes

Deduce the genotypes

Edited from: http://www.slideshare.net/gurustip/theoretical-genetics

Edited from: http://www.slideshare.net/gurustip/theoretical-genetics

Key: female male

Edited from: http://www.slideshare.net/gurustip/theoretical-genetics

Key: female male

F0 Phenotype: carrier carrier

Punnet Grid: gametes T t

F0 Phenotype: carrier carrier

Punnet Grid: gametes T t

Phenotype ratio: 3:1

2. Is this disorder autosomal or sex-linked

3. Produce a punnett square to explain the

2. Is this disorder autosomal or sex-linked

3. Produce a Punnett grid to explain the

Edited from: http://www.slideshare.net/gurustip/theoretical-genetics

F0 Phenotype: normal affected

Punnet Grid: gametes T t

F0 Phenotype: normal affected

Punnet Grid: gametes T t

Phenotype ratio: 1:1

What number do you see?

Chromosome images from Wikipedia:

The sex chromosomes are non-homologous. There are

The sex chromosomes are non-homologous. There are

The sex chromosomes are non-homologous. There are

Examples of sex-linked genetic disorders:

How is colour-blindness inherited?

The red-green gene is carried at locus Xq28.

Normal vision is dominant over colour-blindness.

How is colour-blindness inherited?

The red-green gene is carried at locus Xq28.

Normal vision is dominant over colour-blindness.

How is colour-blindness inherited?