Ib Biology 3.4 Inheritance

3.
4 Inheritance
Essential idea: The inheritance of genes follows patterns.
The patterns that genes and the phenotypes they generate can be
mapped using pedigree charts. The image show a small section of a
pedigree chart that maps the inheritance of hair colour in an
extended family over several generations. Analysis of pedigree
charts enables us to the nature of the inheritance; controlled by
dominant or recessive alleles? linked to the sex chromosomes?
controlled by multiple genes or a single gene?
By Chris Paine
http://www.bioknowledgy.info/
http://www.indiana.edu/~oso/lessons/Genetics/RealColors.html
Understandings
Statement Guidance
3.4.U1 Mendel discovered the principles of inheritance with
experiments in which large numbers of pea plants were
crossed.
3.4.U2 Gametes are haploid so contain only one allele of each
gene.
3.4.U3 The two alleles of each gene separate into different
haploid daughter nuclei during meiosis.
3.4.U4 Fusion of gametes results in diploid zygotes with two
alleles of each gene that may be the same allele or
different alleles.
3.4.U5 Dominant alleles mask the effects of recessive alleles
but co-dominant alleles have joint effects.
3.4.U6 Many genetic diseases in humans are due to recessive
alleles of autosomal genes, although some genetic
diseases are due to dominant or co-dominant alleles.
3.4.U7 Some genetic diseases are sex-linked. The pattern of Alleles carried on X chromosomes should be
inheritance is different with sex-linked genes due to shown as superscript letters on an upper case X,
their location on sex chromosomes. such as Xh.
3.4.U8 Many genetic diseases have been identified in humans
but most are very rare.
3.4.U9 Radiation and mutagenic chemicals increase the
mutation rate and can cause genetic diseases and
cancer.
Applications and Skills
Statement Guidance
3.4.A1 Inheritance of ABO blood groups. The expected notation for ABO blood group
alleles: O = i, A=IA, B = IB.
3.4.A2 Red-green colour blindness and hemophilia as
examples of sex-linked inheritance.
3.4.A3 Inheritance of cystic fibrosis and Huntingtons disease.
3.4.A4 Consequences of radiation after nuclear bombing of
Hiroshima and accident at Chernobyl.
3.4.S1 Construction of Punnett grids for predicting the
outcomes of monohybrid genetic crosses.
3.4.S2 Comparison of predicted and actual outcomes of
genetic crosses using real data.
3.4.S3 Analysis of pedigree charts to deduce the pattern of
inheritance of genetic diseases.
3.4.U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea
plants were crossed.
Johann Gregor Mendel
Mendels principles of inheritance (1822-1884)
Learn about Mendel and his work by using the weblinks
Gregor Mendel: Great Minds by SciShow
Because of his work

with pea plants Mendel
is considered the father
of modern genetics.
He planted 1000s of
seeds per trial and
https://youtu.be/GTiOETaZg4w?list=PLC31B0C382 carried out many trials Biologica: Mendels Peas
F9585D6 to be sure of his results.
Gregor Mendel and pea plants
His published work
(1865) is now
considered important,
but at the time was
ignored for 30 years.
http://biologica.concord.org/webtest1/
https://www.dnalc.org/view/16002-Gregor- web_labs_mendels_peas.htm
Mendel-and-pea-plants.html
https://upload.wikimedia.org/wikipedia/commons/3/3d/Gregor_Mendel_oval.jpg
Nature of science: Making quantitative measurements with replicates to ensure reliability. Mendels genetic
crosses with pea plants generated numerical data. (3.2)
To use statistical tests correctly and reach valid conclusions samples of

quantitative data has to be sufficiently large
Larger samples give smaller
First to develop theory scientists must make standard deviation*, this in
deductions and test hypotheses: both processes turn makes it easier to find a
rely on quantitative data. statistically significant result at
Secondly It is not enough to just have numerical a higher confidence level
data, the sample size must be sufficiently large
to be judged reliable.
In smaller samples
anomalous values
are more likely to
skew the
calculated mean The sample size required
and standard varies:
deviation The larger the natural
variation the larger
the sample
Depends on the type
*The standard deviation of the population is constant: (small) samples of statistical test used
have a higher standard deviation than the population the sample
comes from.
http://www.conceptstew.co.uk/PAGES/nsamplesize.html
Nature of science: Making quantitative measurements with replicates to ensure reliability. Mendels genetic
crosses with pea plants generated numerical data. (3.2)
To use statistical tests correctly and reach valid conclusions samples of

quantitative data has to be sufficiently large
Larger samples give smaller
First to develop theory scientists must make standard deviation*, this in
deductions and test hypotheses: both processes turn makes it easier to find a
rely on quantitative data. statistically significant result at
Secondly It is not enough to just have numerical a higher confidence level
data, the sample size must be sufficiently large
to be judged reliable.
In smaller samples
anomalous values
are more likely to
skew the
calculated mean The sample size required
and standard depends on:
deviation The larger the natural
variation the larger
the sample
Type of statistical test
*The standard deviation of the population is not affected, remember used
that (small) samples have a higher standard deviation than the
population the sample comes from.
http://www.conceptstew.co.uk/PAGES/nsamplesize.html
Definitions This image shows a pair of homologous chromosomes.
Name and annotate the labeled features.
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
Review: 3.3.U2 The halving of the chromosome number allows a sexual life cycle with fusion of gametes.
Many eukaryotes reproduce by sexual reproduction. Even organisms capable of

asexual reproduction will reproduce sexually as well. Sexual reproduction involves
fertilisation, the fusion of gametes (sex cells), one from each parent.
Because fertilisation
involves the fusion of
gametes the number of
chromosomes in the next
generation is doubled.
To compensate for
the chromosome
doubling during
fertilisation gametes
To prevent a doubling of undergo meiosis,
chromosomes in each which halves the
generation a halving chromosomes
mechanism is needed present in gametes
during the life cycle. compared to the
parent.
http://www.biologycorner.com/resources/diploid_life_cycle.gif
3.4.U3 The two alleles of each gene separate into different haploid daughter nuclei during meiosis. AND 3.4.U2 Gametes are
haploid so contain only one allele of each gene. AND 3.4.U4 Fusion of gametes results in diploid zygotes with two alleles of
each gene that may be the same allele or different alleles.
Because fertilisation
involves the fusion of
gametes the number
of chromosomes is
doubled. The diploid
organism also now
contains two alleles
for each gene locus.
Meiosis, along with
halving the
chromosomes
present in gametes
The alleles present at
also reduces the
a gene locus maybe
number of alleles
similar or different.
of each gene locus
from two to one.
http://www.biologycorner.com/resources/diploid_life_cycle.gif
3.4.A1 Inheritance of ABO blood groups.
The ABO blood type classification system uses the presence or absence of
certain antigen on red blood cells to categorize blood into four types.
Distinct molecules called agglutinogens (a type of antigen) are attached to the surface of red
blood cells. There are two different types of agglutinogens, type "A" and type "B.
http://www.ib.bioninja.com.au/_Media/abo_blood_groups_med.jpeg
http://www.anatomybox.com/tag/erythrocytes/
A Nobel breakthrough in medicine.
More about blood typing
Antibodies (immunoglobulins) are specific to antigens.
The immune system recognises 'foreign' antigens and
produces antibodies in response - so if you are given the
wrong blood type your body might react fatally as the
antibodies cause the blood to clot.
Blood type O is known as the universal donor, as it has no

antigens against which the recipient immune system can
react. Type AB is the universal recipient, as the blood has
no antibodies which will react to AB antigens.
Blood typing game from Nobel.org: Images and more information from:
http://nobelprize.org/educational/medicine/landsteiner/readmore.html http://learn.genetics.utah.edu/content/begin/traits/blood/
The ABO blood type is controlled by a single gene, the ABO gene. This gene has
three different alleles:
i O allele (no anitgen is produced) Allele variant

IA A allele (type A anitgen is produced)
IA
IB B allele (type B anitgen is produced)
Gene (lower case for recessive alleles)
Diploid cells possess two alleles therefore the possible

genotype and phenotype combinations are:
Genotype Antigen production Phenotype

(allele combination) (characteristic expressed)
ii No antigen produced Blood type O

IAIA and IAi Type A anitgen produced Blood type A
IBIB and IBi Type B anitgen produced Blood type B
IAIB Both type A and B anitgens produced Blood type AB
3.4.U5 Dominant alleles mask the effects of recessive alleles but co-dominant alleles have joint effects.
Dominant alleles have the same effect on Type A allele present and blood
the phenotype whether it is present in the type is A therefore the type A
homozygous or heterozygous state allele is dominant to type O
A
I i
Recessive alleles only have an effect on the Type O allele present and blood
phenotype when present in the homozygous type is not O therefore the type O
state allele is recessive to type A
Type A and B alleles are

Codominant alleles are pairs of different
alleles that both affect the phenotype when A
I IB present and blood type is AB
therefore type Aand B alleles
present in a heterozygote are codominant
3.4.U5 Dominant alleles mask the effects of recessive alleles but co-dominant alleles have joint effects.
Dominant alleles have the same effect on Type A allele present and blood
the phenotype whether it is present in the type is A therefore the type A
homozygous or heterozygous state allele is dominant to type O
A
I i
Recessive alleles only have an effect on the Type O allele present and blood
phenotype when present in the homozygous type is not O therefore the type O
state allele is recessive to type A
Type A and B alleles are

Codominant alleles are pairs of different
alleles that both affect the phenotype when A
I IB present and blood type is AB
therefore type Aand B alleles
present in a heterozygote are codominant
3.4.S1 Construction of Punnett grids for predicting the outcomes of monohybrid genetic crosses.
Explain this Mendel crossed some yellow peas with some yellow
peas. Most offspring were yellow but some were green!
Mendel from:
http://history.nih.gov/exhibits/nirenberg/popup_htm/01_mendel.htm
Segregation alleles of each gene separate into different

gametes when the individual produces gametes
The yellow parent peas must

Mendel did not know about
be heterozygous. The yellow
DNA, chromosomes or meiosis.
phenotype is expressed.
Through his experiments he did
Through meiosis and
work out that heritable factors
fertilisation, some offspring
(genes) were passed on and
peas are homozygous
that these could have different
recessive they express a
versions (alleles).
green colour.
Mendel from:
Segregation alleles of each gene separate into different

gametes when the individual produces gametes
F0 Key to alleles:
Y = yellow
y = green
Genotype: Yy Yy Alleles segregate during
meiosis (anaphase I) and end
up in different haploid gametes.
Gametes: Y or y Y or y
Punnet Grid: gametes
Simplified notation of using

upper case for dominant
and lower case for
Genotypes: recessive is acceptable in
F1 Phenotypes:
the case of two alleles
without co-dominance.
Phenotype ratio: Mendel from:

Monohybrid Cross Crossing a single trait.
F0 Key to alleles:
Y = yellow
y = green
Fertilisation results in diploid
Punnet Grid: gametes zygotes.
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 (F1).
Genotypes:
F1 Phenotypes:

F0 Key to alleles:
Y = yellow
y = green
Punnet Grid: gametes Y y zygotes.

Y YY Yy deduce the potential outcomes
y Yy yy expected ratio of phenotypes in
Genotypes:
F1 Phenotypes:

F0 Key to alleles:
Y = yellow
y = green
Punnet Grid: gametes Y y zygotes.

Y YY Yy deduce the potential outcomes
y Yy yy expected ratio of phenotypes in
Genotypes: YY Yy Yy yy Ratios are written in the

F1 Phenotypes:
simplest mathematical form.
Phenotype ratio: 3:1 Mendel from:

Monohybrid Cross 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
Punnet Grid: gametes Y y

y Yy yy
y Yy yy
Genotypes: Yy Yy yy yy
F1 Phenotypes:
Phenotype ratio: 1:1


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

F0 Phenotype:
Key to alleles:
Y = yellow
y = green
Genotype: YY Yy
Homozygous dominant Heterozygous
Punnet Grid: gametes Y y

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

3.4.S2 Comparison of predicted and actual outcomes of genetic crosses using real data.
Cat genetics collecting real world data

Do the inherited traits match what we know about cat genes?
http://www.g3journal.org/content/4/10/1881/F4.large.jpg

Locus Phenotype and genotypes guide Cats surveyed
1 2 12
1. Sex Male (XY) / Female (XX)
record genotype
2. Hair length short (ll) / long (LL, Ll)

record phenotype
3. Dominant white completely white (WW, Ww) / some colour

(ww)
record phenotype - stop here if white is recorded
4. Piebald No white (ss) / Some White (Ss) / Mostly

White (SS)
record genotype, some is < 50%, more is > 50%
5. Pigment density dense - black, brown or orange (DD, Dd) /

diffuse - gray, light brown or cream (dd)
record phenotype
5. Orange orange or cream (XOXO, XOY) / orange and

black or cream and grey (XOXo) / black or
grey (XoXo, XoY)
record genotype appropriate for the sex
Cat images: https://www.petfinder.com/

Source: http://udel.edu/~mcdonald/mythintro.html

1. Use the slide (previously) or first hand data collected from a family of cats
2. Survey the cats by completing the table (on the prior slide) make sure you
indicate which cats are the parents and which are the offspring
It is important you do not create results, if you cannot determine a characteristic learn the box empty or
write unknown
3. From the parental background on the genetic traits construct an expected
frequency table
4. Test the expected frequencies against those observed using the Chi-Squared test
(see the following slides
n.b. especially with small sample sizes it is not always the case that observed
data will support theory. Outcomes are individual events and independent of the
collective probability, but the larger the sample the more likely the general
outcome will follow the theoretical expectation.
Cat images: https://www.petfinder.com/

Source: http://udel.edu/~mcdonald/mythintro.html

How well does the piebald frequency in the offspring match the predictions made from our
knowledge of the genes?
F0 Phenotype: Some white No white

Key to alleles:
S = White
s = no white
Genotype: Ss ss
Key to genotypes:
ss = no white
Punnet Grid: gametes s s Ss = some white
SS = mostly white
S Ss Ss
s ss ss
Genotypes: Ss Ss ss ss
F1 Phenotypes: Some white No white Expected ratios
Phenotype ratio: 1:1

How well does the piebald frequency in the offspring match the predictions made from our
knowledge of the genes?
df critical values
at 5%
genotype observed expected
1 3.84
SS 2 5.99
0 0
(mostly white)
3 7.82
Ss
3 2 4 9.49
(some white)
ss 5 11.07
1 2
(no white)
N = number of classes
Degrees of freedom (df) = N 1 Chi-squared value =
=31
=2
= (0 0)2 + (3 2)2 + (1 2)2
0 2 2
Chi-squared value < critical value therefore we
support the hypothesis of piebald coat colour
=1
Chi-squared Test and genetics

More help and examples using the Chi-squared test:
http://www.slideshare.net/gurustip/the-chisquared-test
Test Cross Used to determine the genotype of an unknown individual.

The unknown is crossed with a known homozygous recessive.
F0 Phenotype:
Key to alleles:
R = Red flower
r = white
Genotype: R? r r
unknown Homozygous recessive
Possible outcomes:
F1 Phenotypes:
Unknown parent = RR Unknown parent = Rr
gametes gametes
Test Cross Used to determine the genotype of an unknown individual.

The unknown is crossed with a known homozygous recessive.
F0 Phenotype:
Key to alleles:
R = Red flower
r = white
Genotype: R? r r
unknown Homozygous recessive
Possible outcomes:
F1 Phenotypes: All red Some white, some red

Unknown parent = RR Unknown parent = Rr
gametes r r gametes r r
R Rr Rr R Rr Rr
R Rr Rr r rr rr
3.4.U8 Many genetic diseases have been identified in humans but most are very rare.
3,358 genes with a phenotype-causing

mutation (OMIM, March 19, 2015)
Estimated total of 20,000-25,000 genes that
are expressed as proteins (International
Human Genome Sequencing Consortium,
2004).
Although it is impossible to give a single value
estimate we can say that genetic diseases are
very rare.
The number of genes present in the human

genome along with the fact that most
conditions are autosomal recessive: it is
unlikely that one parent will have a mutation
on a disease related gene, but the probability
that both parents have a mutation on the
same gene is very small. http://learn.genetics.utah.edu/content/history/geneticrisk/
For example: Phenylketonuria (PKU) is a rare metabolic disorder that can be destructive to
the nervous system, causing intellectual disability. About 1 out of every 15,000 babies is born
with PKU. (Source: http://learn.genetics.utah.edu/content/disorders/singlegene/pku/)
3.4.U6 Many genetic diseases in humans are due to recessive alleles of autosomal genes, although some
genetic diseases are due to dominant or co-dominant alleles.
Career-related Case Study

According to the US Bureau of Labor Statistics, the graduate of today will change
career four to six times in a lifetime. By one estimate, 65 per cent of the jobs that
will be available upon college graduation for students now entering high school
(that's eight years from now) do not yet exist. Consider the new interdisciplinary
field of genetic counselling, which combines biological science with social work and
ethics - it was ranked as one of the "top 10" career choices of 2010 because it
offered far more openings than could be filled by qualified applicants.
From the Times Higher Education Supplement So Last Century
http://www.timeshighereducation.co.uk/story.asp?sectioncode=26&storycode=415941&c=2
Edited from: http://www.slideshare.net/gurustip/theoretical-genetics

Career-related Case Study

According to the US Bureau of Labor Statistics, the graduate of today will change
career four to six times in a lifetime. By one estimate, 65 per cent of the jobs that
will be available upon college graduation for students now entering high school
(that's eight years from now) do not yet exist. Consider the new interdisciplinary
field of genetic counselling, which combines biological science with social work and
ethics - it was ranked as one of the "top 10" career choices of 2010 because it
offered far more openings than could be filled by qualified applicants.
From the Times Higher Education Supplement So Last Century
http://www.timeshighereducation.co.uk/story.asp?sectioncode=26&storycode=415941&c=2
You are a genetic counselor. A couple walk into your clinic and are concerned about
their pregnancy. They each have one parent who is affected by cystic fibrosis (CF) and
one parent who has no family history. Explain CF and its inheritance to them. Deduce
the chance of having a child with CF and how it can be tested and treated.
Use the following tools in your explanations:

Pedigree chart
Punnet grid
Diagrams

3.4.U6 Many genetic diseases in humans are due to recessive alleles of autosomal genes, although some genetic diseases
are due to dominant or co-dominant alleles. AND 3.4.A3 Inheritance of cystic fibrosis and Huntingtons disease.
Cystic Fibrosis (CF) Clinical example.
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.

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).
Diagnosis- blood test taken at 6-7 days after birth

http://www.flickr.com/photos/ozewiezewozewiezewallakristallix/263
2833781/
https://youtu.be/-a-WHZoTX0E

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?

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

T TT Tt
t Tt tt
Genotypes: TT Tt Tt tt
F1 Phenotypes: Normal CF
Therefore 25% chance
Phenotype ratio: 3:1 of a child with CF
3.4.S3 Analysis of pedigree charts to deduce the pattern of inheritance of genetic diseases.
Pedigree Charts Key to alleles:

T = Normal allele
Pedigree charts can be used to trace family histories and deduce t = mutated allele
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

T = Normal allele
Pedigree charts can be used to trace family histories and deduce t = mutated allele
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
To have produced affected
Trait is recessive, as both Recessive traits only
child H, D must have inherited
Reason are normal, yet have produced
an affected child (C)
expressed when
homozygous.
a recessive allele from either A
or B

T = Normal allele
Individuals D and $ are planning to have another child. t = mutated allele
Calculate the chances of the child having CF.
Key: female male
affected
Not
$ Affected
deceased
Looks like
Genotypes:
D= Gametes
Phenotype ratio
$= Therefore


T= Has enzyme
Individuals D and $ are planning to have another child. t = no enzyme
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

Review: 3.1.A1 The causes of sickle cell anemia, including a base substitution mutation, a change to the base
sequence of mRNA transcribed from it and a change to the sequence of a polypeptide in hemoglobin.
Review: 3.1.A1 The causes of sickle cell anemia, including a base substitution mutation, a change to the base
sequence of mRNA transcribed from it and a change to the sequence of a polypeptide in hemoglobin.
https://youtu.be/1fN7rOwDyMQ
Sickle Cell Another example of codominance.
Remember the notation used: superscripts

represent codominant alleles.
In codominance, heterozygous individuals have a
mixed phenotype.
The mixed phenotype gives protection against malaria, but does not exhibit full-blown sickle cell anemia.
Complete the table for these individuals:
Genotype
Description Homozygous HbA Heterozygous Homozygous HbS
Phenotype
Malaria
protection?
Sickle Cell Another example of codominance.
Remember the notation used: superscripts

represent codominant alleles.
In codominance, heterozygous individuals have a
mixed phenotype.
The mixed phenotype gives protection against malaria, but does not exhibit full-blown sickle cell anemia.
Complete the table for these individuals:
Genotype HbA HbA HbA HbS HbS HbS
Description Homozygous HbA Heterozygous Homozygous HbS
Phenotype normal carrier Sickle cell disease
Malaria
No Yes Yes
protection?
Sickle Cell Another example of codominance. Key to alleles:

HbA = Normal Hb
HbS = Sickle cell
Predict the phenotype ratio in this cross:
F0 Phenotype: carrier affected

Genotype:
Genotypes:
F1 Phenotypes:
Phenotype ratio: : Therefore 50% chance of a
child with sickle cell disease.

HbA = Normal Hb
HbS = Sickle cell
F0 Phenotype: carrier affected

Genotype: HbA Hbs HbS Hbs
Punnet Grid: gametes HbS HbS

HbA HbAHbS HbAHbS
HbS HbSHbS HbSHbS
Genotypes: HbAHbS & HbSHbS
F1 Phenotypes: Carrier & Sickle cell
Phenotype ratio: 1:1 Therefore 50% chance of a


HbA = Normal Hb
HbS = Sickle cell

Genotype:
Genotypes:
F1 Phenotypes:
Phenotype ratio:

HbA = Normal Hb
HbS = Sickle cell

Genotype: HbA HbS HbA HbS
Punnet Grid: gametes HbA HbS

HbA HbAHbA HbAHbS
HbS HbAHbS HbSHbS
Genotypes: HbAHb & 2 HbAHbS & HbSHbS
F1 Phenotypes: Unaffected & Carrier & Sickle cell
Phenotype ratio: 1: 2 : 1 Therefore 25% chance of a


HbA = Normal Hb
HbS = Sickle cell
F0 Phenotype: carrier unknown

Genotype: HbA HbS
HbA
HbS
Genotypes:
F1 Phenotypes:
Phenotype ratio:

HbA = Normal Hb
HbS = Sickle cell

Genotype: HbA HbS HbA HbA or HbA HbS
Punnet Grid: gametes HbA HbA HbA HbS

HbA
HbS
Genotypes:
F1 Phenotypes:
Phenotype ratio:

HbA = Normal Hb
HbS = Sickle cell

Genotype: HbA HbS HbA HbA or HbA HbS
Punnet Grid: gametes HbA HbA HbA HbS

HbA HbAHbA HbAHbA HbAHbA HbAHbS
HbS HbAHbS HbAHbS HbAHbS HbSHbS
Genotypes: 3 HbAHbA & 4 HbAHbS & 1 HbSHbS

F1 Phenotypes: 3 Unaffected & 4 Carrier & 1 Sickle cell
Phenotype ratio: 3:4:1 Therefore 12.5% chance of a

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) 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]
http://learn.genetics.utah.edu/content/disorders/singlegene/hunt/
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
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
Genotypes: Tt Tt tt tt
F1 Phenotypes: HD Normal
Therefore 50% chance
Phenotype ratio: 1:1 of a child with HD
3.4.U7 Some genetic diseases are sex-linked. The pattern of inheritance is different with sex-linked genes
due to their location on sex chromosomes.
Sex Linkage X and Y chromosomes are non-homologous.
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
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:

- haemophilia
- colour blindness
http://www.angleseybonesetters.co.uk/bones_DNA.html
Edited from: http://www.slideshare.net/gurustip/theoretical-genetics http://en.wikipedia.org/wiki/Y_chromosome
3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
What number do you see?
Chromosome images from Wikipedia:

http://en.wikipedia.org/wiki/Y_chromosome
What number do you see?
5 = normal vision
2 = red/green colour blindness

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

XN Xn
Carrier female
heterozygous with respect to sex-linked genes.
Heterozygous females are carriers.
What chance of a colour-blind child in the cross between a Key to alleles:

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


blindness
Punnet Grid:
XN Y
XN XN XN XN Y
F1 n
Xn XN Xn X Y


blindness
Punnet Grid:
XN Y
N N XN
X X XN Y
Normal female Normal male
F1
Xn XN Xn
Carrier female
Xn Y
Affected male
There is a 1 in 4 (25%)
chance of an affected child.
What ratios would we expect in a cross between: http://en.wikipedia.org/wiki/Y_chromosome
a. a colour-blind male and a homozygous normal female?
b. a normal male and a colour-blind female?
Red-Green Colour Blindness How does it work?
The OPN1MW and OPN1LW genes are found at locus Xq28.
They are responsible for producing

photoreceptive pigments in the cone
cells in the eye. If one of these genes is
a mutant, the pigments are not
produced properly and the eye cannot
distinguish between green (medium)
wavelengths and red (long)
wavelengths in the visible spectrum.
Because the Xq28 gene is in a non-homologous region when compared

Xq28
to the Y chromosome, red-green colour blindness is known as a sex-
linked disorder. The male has no allele on the Y chromosome to
combat a recessive faulty allele on the X chromosome.

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.
XH XH
Normal female
XH Y
Normal male
no allele carried, none written
Key to alleles:
XH = healthy clotting factors
Xh Xh
Affected female
Xh Y
Affected male
Xh = no clotting factor
Human females can be homozygous or

XH Xh
Carrier female
heterozygous with respect to sex-linked genes.
Heterozygous females are carriers.
Hemophilia results from a lack of clotting factors. These are globular

proteins, which act as enzymes in the clotting pathway.
Read/ research/ review:
How can gene transfer be used to treat

hemophiliacs?
What is the relevance of the genetic code

is universal in this process?

Hemophilia results from a lack of clotting factors. These are globular

proteins, which act as enzymes in the clotting pathway.

Hemophilia This pedigree chart of the English Royal Family gives us a

picture of the inheritance of this X-linked disorder.
Royal Family Pedigree Chart from:

http://www.sciencecases.org/hemo/hemo.asp
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

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 X h

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
XH XH or XH Xh affected
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
been carrying recessive healthy alleles. by the dominant allele.
If it were recessive, it would need to be Tip: Dont 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.
Super Evil Past Paper Question

In this pedigree chart for hemophilia, what is
the chance that offspring ? will be affected?
A. 0%
B. 12.5%
C. 25%
D. 50%
Key: female male
affected
Not
Affected
deceased

A. 0%
Key to alleles:
B. 12.5% XH = healthy clotting factors
C. 25%
D. 50%
Key: female male
affected
Not
Affected
deceased

A. 0%
Key to alleles:
C. 25%
D. 50%
What do we know?
A = XH Y B = XH Xh (because G = Xh Y) E = XH Y
Key: female male
affected
Not
Affected
XH
deceased
Y

A. 0%
Key to alleles:
C. 25%
D. 50%
What do we know?
Key: female male There is an equal chance of F being XH XH or XH Xh
So:
affected
Not XH XH XH Xh
Affected
XH
deceased
Y

A. 0%
Key to alleles:
C. 25%
D. 50%
What do we know?
So:
affected
Not XH XH XH Xh
Affected
XH XH XH XH XH XH XH XH Xh
deceased
Y XH Y XH Y XH Y Xh Y

A. 0%
Key to alleles:
C. 25%
D. 50%
What do we know?
So:
affected
Not XH XH XH Xh
Affected
XH XH XH XH XH XH XH X H Xh
deceased
Y XH Y XH Y XH Y Xh Y
So there is a 1 in 8 (12.5%) chance of the offspring being affected!

3.4.U9 Radiation and mutagenic chemicals increase the mutation rate and can cause genetic diseases and cancer.
A mutation is a change in an organisms genetic code.

A Gene mutation is a change in the nucleotide sequence of a
section of DNA coding for a particular feature
Mutagens are agents that cause gene

mutations such as:
chemicals that cause mutations (like
some found in tobacco smoke) are
referred to as carcinogens
high energy radiation such as X-rays
ultraviolet light
Some viruses*
Alleles of a gene are similar, but have variations in the base

sequence. New alleles are created by gene mutation.
*Though an important source of mutation it is not a

focus of this syllabus point.
https://commons.wikimedia.org/wiki/File:Papierosa_1_ubt_0069.jpeg
Review: 1.6.U6 Mutagens, oncogenes and metastasis are involved in the development of primary
and secondary tumours.
If a mutation occurs in an oncogenes it can become cancerous. In normal cells

oncogenes control of the cell cycle and cell division.
mutation in a oncogene
malfunction in the control

of the cell cycle
uncontrolled cell division
tumour formation
http://en.wikipedia.org/wiki/Oncogene#mediaviewer/File:Oncogenes_illustration.jpg
3.4.U9 Radiation and mutagenic chemicals increase the mutation rate and can cause genetic diseases and cancer.
A mutation is a change in an organisms genetic code.

A Gene mutation is a change in the nucleotide sequence of a
section of DNA coding for a particular feature
Mutations can be classed as being beneficial, neutral (due to the

degenerate nature of DNA) or harmful. Most mutations are neutral
or harmful.
Mutations that occur in body (somatic cells) remain within

the organism. Mutations that occur in gametes can be
inherited by offspring: this is how genetic diseases arise.
http://www.nature.com/scitable/topicpage/rare-genetic-disorders-learning-about-genetic-disease-979
3.4.A4 Consequences of radiation after nuclear bombing of Hiroshima and accident at Chernobyl.
accident at Chernobyl nuclear power station
Radioactive isotopes released into the environment

exposing humans and other organisms to potentially
dangerous levels of radiation.
nuclear bombing of Hiroshima
http://i.telegraph.co.uk/multimedia/archive/02446/hiroshima- https://upload.wikimedia.org/wikipedia/commons/1/16/VOA_Mark
bomb_2446747b.jpg osian_-_Chernobyl02.jpg
nuclear bombing of Hiroshima
Elevated rate of Leukemia (with the

greatest impact in children and young
adults)
Elevated rates of other cancers
No evidence of stillbirth or mutations in
the children of those exposed to radiation
https://upload.wikimedia.org/wikipedia/commons/f/f6/Hiroshima_girl.jpg
https://upload.wikimedia.org/wikipedia/commons/e/e9/The_patient%27s_skin_is_burned_in_a_pattern_corresponding_to_the_dark_porti
ons_of_a_kimono_-_NARA_-_519686.jpg
http://i.telegraph.co.uk/multimedia/archive/02446/hiroshima-bomb_2446747b.jpg
accident at Chernobyl nuclear power station
A large area of pine forest downwind of

the reactor turned brown and died.
Horses and cattle near the plant died
from radiation damage to their thyroid
glands.
Bioaccumulation of radioactive caesium
in fish (Scandinavia and Germany) and
lamb (Wales) - contaminated meat was
banned from sale for years afterward.
Drinking water (and milk) contaminated with radioactive iodine - at least 6,000
thyroid cancer attributed to radioactive iodine.
No clear evidence to support an increase in the rate of leukemia other cancers in
part due to the widely dispersed variable radiation and measures taken in
European populations.
https://upload.wikimedia.org/wikipedia/commons/1/16/VOA_Markosian_-_Chernobyl02.jpg
http://i.guim.co.uk/img/static/sys-images/Guardian/Pix/pictures/2014/6/27/1403890449199/933cb303-bf75-4e9a-8b0b-806bbfa6a37b-
2060x1373.jpeg?w=620&q=85&auto=format&sharp=10&s=abe2802021d01fe090859454e9020a44
Whirling Gene activity from the awesome Learn.Genetics site:
http://learn.genetics.utah.edu/archive/pedigree/mapgene.html
More practise questions for inheritance the best
way to learn genetic theory is by practise.
Excellent problems and tutorials

by the biology project
Sex linked inheritance problems:

http://www.biology.arizona.edu/mendelian_genetics/problem_sets/sex_linked_inheritance/sex_linked
_inheritance.html
Monohybrid inheritance problems:

http://www.biology.arizona.edu/mendelian_genetics/problem_sets/monohybrid_cross/monohybrid_cr
oss.html
Bibliography / Acknowledgments
Bob Smullen

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3.

Essential idea: The inheritance of genes follows patterns.

Because of his work

To use statistical tests correctly and reach valid conclusions samples of

To use statistical tests correctly and reach valid conclusions samples of

Carrier Gene loci

Many eukaryotes reproduce by sexual reproduction. Even organisms capable of

Blood type O is known as the universal donor, as it has no

i O allele (no anitgen is produced) Allele variant

Diploid cells possess two alleles therefore the possible

Genotype Antigen production Phenotype

ii No antigen produced Blood type O

Type A and B alleles are

Type A and B alleles are

Segregation alleles of each gene separate into different

The yellow parent peas must

Segregation alleles of each gene separate into different

Simplified notation of using

Phenotype ratio: Mendel from:

Monohybrid Cross Crossing a single trait.

A punnet grid can be used to

Phenotype ratio: Mendel from:

Monohybrid Cross Crossing a single trait.

A punnet grid can be used to

Phenotype ratio: Mendel from:

Monohybrid Cross Crossing a single trait.

A punnet grid can be used to

Genotypes: YY Yy Yy yy Ratios are written in the

Phenotype ratio: 3:1 Mendel from:

Monohybrid Cross What is the expected ratio of phenotypes

Homozygous recessive Homozygous recessive

Punnet Grid: gametes

Monohybrid Cross What is the expected ratio of phenotypes

Punnet Grid: gametes y y

Phenotype ratio: All green

Monohybrid Cross What is the expected ratio of phenotypes

Homozygous recessive Heterozygous

Punnet Grid: gametes

Monohybrid Cross What is the expected ratio of phenotypes

Punnet Grid: gametes Y y

Phenotype ratio: 1:1

Monohybrid Cross What is the expected ratio of phenotypes

Homozygous dominant Heterozygous

Punnet Grid: gametes

Monohybrid Cross What is the expected ratio of phenotypes

Punnet Grid: gametes Y y

Phenotype ratio: All yellow

Cat genetics collecting real world data

Cat genetics collecting real world data

2. Hair length short (ll) / long (LL, Ll)

3. Dominant white completely white (WW, Ww) / some colour

4. Piebald No white (ss) / Some White (Ss) / Mostly

5. Pigment density dense - black, brown or orange (DD, Dd) /

5. Orange orange or cream (XOXO, XOY) / orange and

Cat images: https://www.petfinder.com/

Cat genetics collecting real world data

Cat images: https://www.petfinder.com/

Cat genetics collecting real world data

F0 Phenotype: Some white No white

Cat genetics collecting real world data

Chi-squared Test and genetics

Test Cross Used to determine the genotype of an unknown individual.

Test Cross Used to determine the genotype of an unknown individual.

F1 Phenotypes: All red Some white, some red