3.4 Theoretical Genetics

Topic 3 core Rana Al Liddawi
3.4 Theoretical Genetics
Define genotype, phenotype, dominant allele, recessive allele, codominant alleles, locus,
homozygous, heterozygous, carrier and test cross.
Genotype: the alleles of a gene carried by an organism.
Phenotype: the expression of the gene; the characteristics of an organism.
Dominant allele: an allele that affect the phenotype when present in the homozygous or heterozygous
state.
Recessive allele: an allele that affect the phenotype only when present in the homozygous state.
Codominant alleles: pairs of alleles which are both expressed when present.
Locus: the particular position of a gene on homologous chromosomes.
Homozygous: having two identical alleles of a gene.
Heterozygous: having two different alleles of a gene.
Carrier: an individual that has one copy of a recessive allele that causes a genetic disease in individuals
that are homozygous for this allele.
Test cross: testing a suspected heterozygote by crossing it with a known homozygous recessive.
Pure breeding: has homozygous genotype.
Key points when solving genetics problems:
• Always provide a key indicating dominant and recessive.

• Always choose a letter to represent a gene where the upper and lower cases are CLEARLY
different. (R and r)
• Always set out a genetics answer fully and clearly showing:
- Parental generation (P or F0)
- Gametes
- Offspring (F1 or F2)
• Notice that phenotype is expressed in words whereas genotype is expressed in letters.
• All problems would fall into 4 categories:
a) Simple monohybrid cross (possible genotypes: AA, Aa, aa)
b) Codominance (possible genotypes: AA, BB, AB)
To be recognized when the offspring are some form of mixture of the two parents.
E.g white and black produce grey
c) Multiple alleles (see blood type example)
d) Sex linkage (Possible genotypes: XNXN, XNXn , XnXn, XNY, XnY)
• To be recognized when most of the affected offspring are males.
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Note:
• Diploid cells contain two alleles of each gene because chromosomes are present in
homologous pairs.
• During the process of meiosis, the two alleles of each gene become separated into
different gametes.
• Gametes are haploid: they only contain one allele of each gene.
• If a homozygous cell undergoes meiosis, the four gametes will be the same.
• If a heterozygous cell undergoes meiosis, half the gametes will contain the dominant
allele and half will contain the recessive allele.
What features of Mendel’s experiments with pea plants allowed him to make confident
conclusions about the principles of inheritance. (nature of Science)
• Mendel obtained quantitative data rather than qualitative data.

• He crossed very large numbers of pea plants.
• He analyzed thousands of individual plants in F1, and F2, offspring generations.
• Large numbers enabled him to deduce an almost perfect 3:1 ratio in F2 generation (when
two heterozygous parents were crossed).
• He did experiments with several different single gene (monogenic) traits and the ratios
he observed were the same with each trait.
• With many replicate experiments, he was confident his data were reliable.
• From his experiments, Mendel concluded that each plant
• has two alleles of each gene and there can be dominant and recessive alleles.
• He also concluded that pairs of alleles separate (or segregate) equally during the
formation of gametes.(law of segregation)
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Mendel’s results:
http://www.sumanasinc.com/webcontent/animations/content/mendelindassort.html
Gametes have only one allele of each gene

Constructing a Punnett grid
• The figure below shows a Punnett grid. A Punnett grid can be used to show how the alleles of
parents are split between their gametes and how new combinations of alleles can show up in
their offspring.
• The purpose of a Punnett grid is to show all the possible combinations of genetic information for
a particular trait in a monohybrid cross. A monohybrid cross is one in which the parents have
different alleles and which shows the results for only one trait.
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In order to set up a Punnett grid, the following steps must be followed. (Pearson)
1. Choose a letter to show the alleles.

Use the capital and lower case versions of the letter to represent the different alleles.
Usually, a capital letter represents the dominant allele and the lower case letter
represents the recessive allele. For example:
•A = dominant allele, allows pigments to form
• a = recessive allele, albinism, allows few or no pigments to form.
Get used to saying ‘big A’ and ‘little a’ when reading alleles and genotypes. Also, do not
mix letters: for example, you cannot use P for pigmented and a for albino. Once you
have chosen a letter, write down what it means so that it is clear which allele is which.
2. Determine the parents’ genotypes.

To be sure that no possibilities are forgotten, write out all three possibilities and decide
by a process of elimination which genotype or genotypes fit each parent.
The three possibilities here are:

• homozygous dominant (AA) – in this case, the phenotype shows pigmentation
• heterozygous (Aa) – in this case, the phenotype shows pigmentation but the
heterozygote is a carrier of the albino allele
• homozygous recessive (aa) – in this case, the phenotype shows albinism.
The easiest genotype to determine by simply looking at a person or animal is aa. The
other two are more of a challenge. To determine whether an individual is AA or Aa,
we have to look for evidence that the recessive gene was received from an albino parent
or was passed on to the individual’s offspring. In effect, the only way to produce an
albino is for each parent to donate one a.
3. Determine the gametes that the parents could produce.

An individual with a genotype AA can only make gametes with the allele A in them.
Heterozygous carriers can make A-containing gametes or a-containing gametes.
Obviously, individuals whose genotype is aa can only make gametes that contain the a
allele. So you can record and label with A or a all the possible gametes.
4. Draw a Punnett grid.

Once all the previous steps have been completed, drawing the actual grid is simple. The
parents’ gametes are placed on the top and side of the grid. As an example, consider a
cross involving a female carrier Aa crossed with a male albino aa.
You might guess that, because there are three a alleles and only one A, there should be
a three out of four chance of seeing offspring with the recessive trait. But this is not the
case. The figure below is a grid with the parents’ gametes.
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Now you can fill in the empty squares with each parent’s possible alleles by copying
the letters from the top down and from left to right. When letters of different sizes end
up in the same box, the big one goes first.
5. Work out the chances of each genotype and phenotype occurring.

In a grid with four squares, each square can represent one of two possible statistics:
• the chance that these parents will have offspring with that genotype, here each square
represents a 25% chance
• the probable proportion of offspring that will have the resulting genotypes, this only
works for large numbers of offspring.
Monohybrid cross:
Determine the genotypes and phenotypes of the offspring of a monohybrid cross using a Punnett grid.
Example: yellow peas are crossed with green peas and all the offspring are yellow peas. When these
offspring are crossed with green peas approximately one half of the offspring are green peas. Explain
fully.
Answer: since all offspring of the first cross are yellow, then yellow must be dominant over green. Since
all offspring is yellow, they all must carry the R allele.
1st cross:
F0 Phenotype: yellow peas X green peas Dominant: yellow (R)

Recessive: green (r)
Genotype: RR X rr
Gametes: R r
F1 Genotype: all Rr
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Phenotype: all yellow
2nd cross:
Phenotype: yellow peas X green peas
Genotype: Rr X rr
Gametes: R , r r
F2
gametes r r
R Rr Rr
r rr rr
F2 Genotype: 50% Rr, 50% rr
Phenotype: 50% yellow, 50% green
Ratio: 1:1
Question:
Using a punnet square to show the offspring phenotypes and genotypes produced from a cross between
2 heterozygous yellow pea plants. Show the phenotypic and genotypic ratios.
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Question:
Fruit flies may be grey or black. Grey is dominant, black is recessive. Make predictions to fill the
blanks.
Explain the difference sometimes between expected and observed offspring ratio.
Parent 1 Parent 2 Observed offspring ratio Expected offspring ratio

Grey Black
Gg 336 82
Gg 64 0
Gg 278 315
• The expected ratios in the table are the three classic Mendelian ratios from a
monohybrid cross (a cross only involving one gene)
• . Sometimes unexpected ratios are observed from crosses with known heterozygous
parents.
• This because some combinations of alleles are lethal.
• A 2: 1 Can be observed if the homozygous dominant combination is lethal.
• A 1 : 0 ratio can be observed if the homozygous recessive combination is lethal.
What is a genetic disease?
- A genetic disease is caused by a gene mutation.

• If the gene is located on an autosome, it is called an autosomal gene.
• Genetic diseases can be caused by recessive, dominant, or co-dominant alleles.
• For example, sickle cell anemia is caused by a base substitution in the HB gene and is
co-dominant.
- There are many genetic diseases in humans but they are rare.
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Outline one genetic disease caused by an autosomal recessive allele and one caused by an autosomal
dominant allele.
1. Example of a genetic disease caused by an autosomal recessive allele:1. Cystic fibrosis

(mainly affects lungs).
- C-normal allele; c- mutant allele
Possible genotype Possible phenotypes

CC healthy
Cc Healthy(carrier)
cc Cystic fibrosis
* A carrier is a heterozygous, healthy individual who carries the recessive allele and can
pass it on.
The following are other examples of autosomal recessive diseases:

2. albinism
3.phenylketonuria (PKU)
4. Tay Sachs disease
5. thalassemia.
6.sickle cell anemia(codomonance)
2. Example of a genetic disease caused by an autosomal dominant allele: Huntington's

disease (neurodegenerative).
HD mutant allele; hd normal allele.
Possible genotype Possible phenotypes

HDHD Huntington's disease
HDhd Huntington's disease
hdhd Healthy
Multiple alleles:
Some genes have more than two alleles (multiple alleles).
Multiple alleles: when some genes have more than two alleles (e.g blood type).
Describe ABO blood groups as an example of codominance and multiple alleles.
The ABO blood group is a good example of codominance and multiple alleles.
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Multiple alleles: There are three alleles that control the ABO blood groups. The allele IA corresponds to
blood group A (genotype IAIA) and the allele IB corresponds to blood group B (genotype IBIB). The allele i is
recessive to both IA and IB so if you have the genotype IA i you will have blood group A and if you have
the genotype IB i you will have blood group B.
Codominant alleles: are pairs of allele that both affect the phenotype when present together in a
heterozygote.
Both of IA and IB are dominant alleles and so if IA and IB are present together they form blood group AB
(genotype IAIB). Both allele affect the phenotype since they are both codominant... However if you have
the genotype ii then you are homozygous for i and will be of blood group O. Below is a table to
summaries which genotypes give which phenotypes.
Phenotype Genotype
A IAIA or IAi
B IBIB or IBi
AB IAIB codominance
O ii
Question:
Is it possible for a couple to have four children, each child showing a different blood type?show your
work using a punnet grid.
Question:
Co-dominance in certain flowers can create more than two colors. For example, in purebred
snapdragon - flowers, sometimes white × red = pink.
The system of letters for showing color in snapdragon flowers uses a prefix C, which refers to the gene
that codes for flower color, plus a superscript, which refers to the specific color, R (red) or W (white).
So the alleles for co-dominant flower color are:

• CR for red flowers
• CW for white flowers.
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The genotypes and their phenotypes are:

• CRCR makes red flowers
• CWCW makes white flowers
• CRCW makes pink - flowers.
Using a punnet square show the possible phenotypic ratio of the offspring produced by pink flower
parents
Sex linkage:
Remember:
We have 23 pairs of chromosomes: 22 pairs are autosomes and one pair (pair number 23rd) is the sex
chromosome.
Explain how the sex chromosomes control gender by referring to the inheritance of X and Y
chromosomes in humans.
• There are two chromosomes which determine gender. These are called the sex chromosomes and
there are two types, the X and the Y chromosome.
• Females have two X chromosomes whereas males have one X and one Y chromosome. The X
chromosome is relatively large compared to the Y (which is much smaller) and contains many genes.
The Y chromosome on the other hand only contains a few genes. The female always passes on to
her offspring the X chromosome from the egg (female gamete). The male can pass on either the Y or
the X chromosome from the sperm (male gamete).
• If the male passes on the X chromosome, then the growing embryo will develop into a girl. If the
male passes on the Y chromosome, then the growing embryo will develop into a boy. Therefore
gender depends on whether the sperm which fertilizes the egg is carrying an X or a Y chromosome.
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What are sex linked genes?
- Sex linked genes are those present on sex chromosomes in humans.

- Some genes are present on the X chromosome and absent from the shorter Y chromosome in
humans.
- Therefore, males only have one allele of these genes.
Define sex linkage.
Sex linkage: when the gene controlling the characteristic is located on the sex chromosome and so we
associate the characteristic with gender.
Clegg
Describe the inheritance of color blindness and hemophilia as examples of sex linkage.
Most of the time sex-linked genes are carried on the X chromosome. Since females have two X
chromosomes they have two copies of the sex-linked gene whereas males only have one since they only
have one X chromosome. Hemophilia and colour blindness are both examples of sex linkage.
Hemophilia
XH is the allele for normal blood clotting and is dominate over Xh which is recessive and causes
hemophilia. If a mother is heterozygous she is a carrier of the disease but does not have hemophilia as
the dominate allele is present. She can however pass the disease on to her offspring. Below is a punnett
showing how a carrier mother and an unaffected father can pass the disease on to their offspring.
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Question: using a punnet grid(square) show the possible offspring phenotypes and genotypes for a
carrier female (for hemophilia) and a normal male.
• From our four possible outcomes we can see that a female child cannot get hemophilia but can
be a carrier. This is because the father will always pass on the dominant allele (XH) on the X
chromosome in females.
• Depending on whether the mother passes on the dominant or recessive allele will determine if
the female child is a carrier or is unaffected by the hemophilia.
• If the child is a boy, then the father has passed on the Y chromosome which does not contain
the allele of the gene. So whether the child has the disease or is unaffected depends on which
allele the mother had passed on.
• If she has passed on the recessive allele (Xh) then the male child will have hemophilia, however if
she has passed on the dominant allele (XH) then the child will be unaffected.
• So there is a 50% chance of the child having hem ophilia if it is male as half of the eggs produced
by the mother will carry the recessive allele. The chance of a female offspring having hemophilia
is 0% since the father always passes on the dominant allele on the X chromosome.
• Finally, there is a 25% chance overall that the offspring will be affected.
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Note: Human female can be homozygous or heterozygous with respect to sex-linked genes.
A human female can be homozygous ( XNXN) or heterozygous : (XNXn ) with respect to sex-linked genes.
Explain that female carriers are heterozygous for X-linked recessive alleles.
Female carriers for X-linked recessive alleles are always heterozygous since they require a dominant
allele and a recessive allele to be carriers. They inherit the recessive allele from one parent and the
dominant allele from the other. For example hemophilia is a sex-linked disease. If a carrier mother and
an unaffected father have offspring then the unaffected father will always pass on his dominate allele to
his female offspring. The carrier mother can either pass on the dominant or recessive allele. If she
passes on the recessive allele to her female offspring than the female offspring will be a carrier as well.
Deduce the genotypes and phenotypes of individuals in pedigree charts.
• Squares represent males

• Circles represent females
• Shaded symbols represent affected individuals
• Unshaded symbols represent unaffected individuals.
How to know if the disorder is sex linked or not?
• If most of the males in the pedigree are affected the disorder is X-linked.
• If it is a 50/50 ratio between men and women, the disorder is autosomal.
How to know if the disorder is dominant or recessive?
• If the disorder is dominant, one of the parents must have the disorder.
• If the disorder is recessive than neither of the parents has to have the disorder as they can be
heterozygous.
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Question:
Determine if the genetic disease in each of the two pedigree charts is caused by autosomal dominant
or recessive allele.
Answer:
Question:
What is the chance of male 7 being red-green colour blind?
Use a punnet square to show the cross between female 5 and male 6.
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Answer:
Question: what is a test cross?
A test cross is done to determine whether a dominant phenotype is homozygous or heterozygous. The
unknown is always crossed with the homozygous recessive.
• If the unknown is homozygous, then 100% of offspring will show the dominant phenotype.
• If the unknown is heterozygous, then 50% of offspring will show the dominant phenotype and the
other 50% will show recessive.
Question: rabbits show different fur colours, it can be black or white. Black colour is dominant and white
is recessive. If you have a black rabbit how can you find out if it has heterozygous or homozygous
genotype. Show your work.
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Some possible causes of mutations, genetic diseases and cancer

List the two types of mutagens(with examples) and outline their effects.
1. lionizing radiation:
Includes X rays, gamma rays, higher energy UV, alpha and beta particles.
2. Chemical mutagens:
Include (in cigarette smoke), vinyl chloride (in plastics industry), and benzene (a solvent).
• Both of these cause random changes in the structure of the DNA.
• Mutagen rate is increased by exposure to mutagens.
• Dose and exposure time both contribute to mutation rate.
• Thus, it increases the incidence of cancer and genetic diseases.
• Typically, it takes many years for cancer to become evident after exposure to a
mutagen takes place. This is because several mutations must accumulate in a
cell.
- The effects of radiation can be studied using two incidents:

1. the nuclear accident at Chernobyl and
2. thee nuclear bombing of Hiroshima. T
- The common feature of these incidents is that radioactive isotopes were released into
the environment and as a result people were exposed to potentially dangerous levels of
radiation.
- Chernobyl released far more radioactive material but will probably have caused fewer
deaths than Hiroshima, because the isotopes released were spread over a wider area
and have longer half-lives so the doses of radiation have been spread over a longer
period.
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Outline the consequences of radiation after the Chernobyl nuclear reactor accident in 1986
and after the bombing of Hiroshima.
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Essential idea: The inheritance of genes follows patterns
3.4 Inheritance
Nature of science:
Making quantitative measurements with replicates to ensure reliability. Mendel’s genetic crosses with pea plants generated
numerical data. (3.2) (p. 3)
Understandings: Theory of knowledge:
Mendel discovered the principles of inheritance with experiments in which large numbers of Mendel’s theories were not
pea plants were crossed. accepted by the scientific
community for a long time. What
Gametes are haploid so contain only one allele of each gene.
factors would encourage the
The two alleles of each gene separate into different haploid daughter nuclei during meiosis. acceptance of new ideas by the
scientific community? (p.)
Fusion of gametes results in diploid zygotes with two alleles of each gene that may be the
same allele or different alleles. Utilisation:
Dominant alleles mask the effects of recessive alleles but codominant alleles have joint Syllabus and cross-curricular
effects. links:
Many genetic diseases in humans are due to recessive alleles of autosomal genes, Biology
although some genetic diseases are due to dominant or codominant alleles. Sub-topic 1.6 Cell division
Some genetic diseases are sex linked. The pattern of inheritance is different with sex-linked Aims:
genes due to their location on sex chromosomes.
Aim 8: Social implications of
Many genetic diseases have been identified in humans but most are very rare. diagnosis of mutations, including
Radiation and mutagenic chemicals increase the mutation rate and can cause genetic the effects on the family and
diseases and cancer. stigmatisation.
Applications and skills:

Application: Inheritance of ABO blood groups. (pp.)
Application: Red-green colour blindness and hemophilia as examples of sex-linked
inheritance. (pp.)
Application: Inheritance of cystic fibrosis and Huntington’s disease. (pp)
Application: Consequences of radiation after the nuclear bombing of Hiroshima and nuclear
accident at Chernobyl. (p.)
Skill: Construction of Punnett grids for predicting the outcomes of monohybrid genetic
crosses. (p.)
Skill: Comparison of predicted and actual outcomes of genetic crosses using real data. (p.)
Skill: Analysis of pedigree charts to deduce the pattern of inheritance of genetic diseases.
(p.)
Guidance:
Alleles carried on X chromosomes should be shown as a superscript letters on an upper
case X, such as Xh. (p. 158)
The expected notation for ABO blood group alleles is: (154-155)
Phenotype O Genotype IiIi

A IAIA or IAIi
B IBIB or IBIi
AB IAIB
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Past papers questions 209-2016
1. [1 mark]
What is the major health issue resulting from the Chernobyl nuclear accident in 1986?
A. Coronary thrombosis
B. Cholera
C. Sex-linked diseases
D. Thyroid cancer
2. [1 mark]
It is possible for two parents to have children with each of the four ABO blood groups. What blood
groups would the parents have?
3. [1 mark]
In a person who is heterozygous for sickle-cell anemia, where is the mutation found?
A. In every gamete produced
B. Only in gametes carrying an X chromosome
C. In all brain cells
D. In blood plasma
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4. [1 mark]
In a human with type A blood, what determines the blood group?
A. Sex chromosomes
B. One or two alleles
C. Multiple alleles
D. Codominant alleles
5. [1 mark]
In a person who is heterozygous for sickle-cell anemia, where is the mutation found?
A. In every gamete produced
B. Only in gametes carrying an X chromosome
C. In all brain cells
D. In blood plasma
6. [1 mark]
In a human with type A blood, what determines the blood group?
A. Sex chromosomes
B. One or two alleles
C. Multiple alleles
7. [1 mark]
If a man with blood group O and a woman with blood group AB have children, which blood group(s)
could the children have?
A. Group O only
B. Groups A and B only
C. Group AB only
D. Groups O, A, B and AB
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8. [1 mark]
Which individuals are colour blind in this Punnett grid?
A. XB Y
B. XB XB
C. Xb Y
D. XB Xb
9. [1 mark]
The feather colour of a certain breed of chicken is controlled by codominant alleles. A cross
between a homozygous black-feathered chicken and a homozygous white-feathered chicken
produces all speckled chickens. What phenotypic ratios would be expected from a cross between
two speckled chickens?
A. All speckled
B. 1 black feathers : 1 white feathers
C. Speckled, black feathers and white feathers in equal numbers
D. 1 black feathers : 2 speckled feathers : 1 white feathers
10. [1 mark]
The presence of freckles is a characteristic controlled by a dominant gene. Two parents who are
heterozygous for the characteristic have three children, all of whom have freckles. Which statement
is true if they have a fourth child?
A. There is a 100 % chance that their next child will have freckles.
B. There is a 75 % chance that their next child will have freckles.
C. There is a 50 % chance that their next child will have freckles.
D. The next child will have no freckles as the ratio is 3 with freckles to 1 without freckles.
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11. [1 mark]
What maximum number of different genotypes and phenotypes are possible among the children of
a mother with blood group A and a father with blood group B?
12. [1 mark]
What is the difference between dominant, recessive and codominant alleles?
13. [1 mark]
Which genotypes are possible when a male with blood group AB and a female with blood group O
have offspring?
A. IAi only
B. IAi and IBi
C. IAi and ii
D. IAi, IBi and ii
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14. [1 mark]
The following shows a pedigree chart.
What type of inheritance is shown in this pedigree chart?

A. X-linked recessive
B. Y-linked dominant
C. X-linked dominant
D. Y-linked recessive
15. [1 mark]
In guinea pigs black coat colour is dominant to white. In a test cross between a black and a white
guinea pig both black and white offspring were produced. What percentage of the offspring would
be expected to be white?
A. 75 %
B. 50 %
C. 33.3 %
D. 25 %
16. [1 mark]
In humans the ABO blood groups are an example of inheritance involving multiple alleles. In a
family the parents have blood group A and blood group B respectively. Their first child has blood
group O. What is the probability that their next child will have blood group B?
A. 100 %
B. 75 %
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C. 50 %
D. 25 %
17. [1 mark]
Alkaptonuria is an inherited condition in humans that affects phenylalanine and tyrosine

metabolism, resulting in the production of black-coloured urine. What deduction can be made
about the allele for this condition from the pedigree chart?
A. It is autosomal dominant.
B. It is autosomal recessive.
C. It is X-linked recessive.
D. It is Y-linked recessive.
18. [1 mark]
The diagram shows a pedigree.
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According to the pedigree shown, which pattern of inheritance is indicated?
A. Sex-linked recessive trait

B. Autosomal recessive trait
C. Autosomal dominant trait
19. [1 mark]
If a father with A-type blood and a mother with B-type blood have a child, what is the probability
that the child will have O-type blood?
A. 50 % chance if both parents have the recessive allele.

B. 25 % chance if both parents have the recessive allele.
C. 0 % chance because neither parent has the allele.
D. 50 % chance if either parent has the recessive allele.
20. [1 mark]
What would be the expected result if a woman carrier for colour blindness and a colour blind man
had many children?
A. All offspring will be colour blind.

B. All male offspring will be colour blind and all females normal.
C. All males will be normal and all females will be colour blind.
D. All females will be carriers of colour blindness or colour blind
21. [1 mark]
In peas, tall is dominant to dwarf. In a cross between a dwarf plant and a heterozygous tall plant
what percentage of the offspring will be dwarf?
A. 0 %
B. 25 %
C. 50 %
D. 100 %
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22. [1 mark]
His wife does not carry the hemophilia allele. What would be expected in their children?
23. [1 mark]
Which is a feature of sex-linked genes in humans?
A. Males can only be heterozygous for the gene.

B. Females can only be homozygous for the gene.
C. Males can be either heterozygous or homozygous for the gene.
D. Females can be either heterozygous or homozygous for the gene.
24. [1 mark]
The Punnett grid shows the inheritance of blood groups.
What is the ratio of phenotypes of the offspring?
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A. 1 : 1 ratio of blood groups A : B

B. 1 : 2 : 1 ratio of blood groups A : AB: B
C. 1 : 1 : 1 ratio of blood groups A : AB: B
D. 2 : 1 : 1 ratio of blood groups A : AB : B
25. [1 mark]
A certain breed of mouse can have fur that is either black or brown. A mouse breeder performs a
test cross using a brown mouse to determine the unknown genotype of a black mouse. There are
four offspring produced by the cross. What conclusions can be drawn?
A. If the black mouse is homozygous, one of the four offspring must be brown.
B. If the black mouse is heterozygous, three of the four offspring must be black.
C. The black mouse must be homozygous if all four offspring are black.
D. The black mouse must be heterozygous if any of the offspring are brown.
26. [1 mark]
In humans a V-shaped hair line is dominant to a straight hair line. A woman with a V-shaped hair
line and a man with a straight hair line have children. The woman has a mother with a straight hair
line. What is the proportion of children who are likely to have a V-shaped hair line?
A. Half of the children

B. A quarter of the children
C. All of the children
D. None of the children
27. [1 mark]
A woman who is a carrier for hemophilia and a man who does not have hemophilia have a child.
What is the probability that the child will have hemophilia?
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28. [1 mark]
Sickle-cell anemia is caused by a mutation. How many changes to the amino acid sequence are
caused by this mutation?
A. 1
B. 2
C. 3
D. 4
29. [1 mark]
A parent organism of unknown genotype is mated in a test cross. Half of the offspring have the
same phenotype as the parent. What can be concluded from this result?
A. The parent of unknown genotype is heterozygous.

B. The parent of unknown genotype is homozygous dominant.
C. The parent of unknown genotype is homozygous recessive.
D. The parent of known genotype is heterozygous.
30. [1 mark]
Rhesus factor is an antigen present on the surface of red blood cells of Rhesus positive individuals.
Rhesus positive (Rh+ ) is dominant to Rhesus negative (Rh– ). A mother with Rhesus negative blood
gives birth to a baby with Rhesus positive blood and there are concerns that subsequent
pregnancies will trigger an immune response.
What are the genotypes of the mother and her first baby?
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31. [1 mark]
The pedigree chart below shows the blood types of three members of a family.
Which could be the blood types of individuals 1 and 2?
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32. [1 mark]
What type of inheritance is shown in this pedigree chart?
A. X-linked dominant
B. Y-linked dominant
C. X-linked recessive
D. Y-linked recessive
33. [1 mark]
A man of blood group A and a woman of blood group B have a child. If both are heterozygous for the
gene, what are the chances of them having a child with blood group B?
A. 0%
B. 25%
C. 50%
D. 75%
30
34. [1 mark]
Which disease is an example of sex-linked (X-linked) inheritance?
A. AIDS
B. Down syndrome
C. Sickle-cell anemia
D. Hemophilia
35. [1 mark]
Which of the following genotypes is possible in the offspring of a homozygous male with blood
group A and a female with blood group B?
A. IAIA
B. IAi
C. ii
D. IBi
36. [1 mark]
What is the cause of sickle-cell anemia?

A. A change to the base sequence of a hemoglobin gene
B. Mosquitoes acting as the vector for malaria
C. Iron deficiency due to the malaria parasite
D. Production of more white blood cells than red blood cells by bone marrow
37. [1 mark]
The blood groups of a mother and four children are indicated on the pedigree chart below.
31
What are the possible blood groups of the father?

A. Group A only
B. Group A or B only
C. Group AB only
D. Group A, B or AB only
38. [1 mark]
Boys can inherit the recessive allele (c) that causes red-green colour blindness from their mother,
not from their father. The allele for normal red and green vision is C. Which of the following
genotypes are possible in men?
A. c only
B. C or c only
C. CC or cc only
D. CC, Cc or cc only
39. [1 mark]
If an organism that is homozygous recessive for a trait is crossed with a heterozygote, what is the
chance of getting a homozygous recessive phenotype in the first generation?
A. 0%
B. 25%
C. 50%
D. 100%
40. [1 mark]
Red-green colour blindness is a sex-linked condition. Which of the following always shows normal
vision?
A. A homozygous male
B. A homozygous female
C. A heterozygous male
D. A heterozygous female
32
41. [1 mark]
In a cross between red haired cattle and white haired cattle the offspring produced are always a
colour called roan (light red). If the roan cattle are interbred they produce white, roan and red
offspring.
How many alleles are controlling this character?
A. 1
B. 2
C. 3
D. 4
42. [1 mark]
What evidence is given in the pedigree chart below to prove that the condition is caused by a
dominant allele?
A. Two unaffected parents have unaffected children.

B. Two affected parents have affected children.
C. An affected parent and an unaffected parent have affected children.
D. Two affected parents have an unaffected child.
33
43a. [2 marks]
Using the table, state whether recessive, dominant and codominant alleles are expressed in
heterozygous and homozygous genotypes by writing yes, no or both.
43b. [1 mark]
State two alleles in blood groups that are codominant.
34
43c. [3 marks]
Clouded leopards live in tropical rainforests of South-East Asia. The normal spots (brown with a
black outline) are dominant and black spots are recessive. The trait is sex-linked. A male with black
spots was crossed with a female with normal spots. She had four cubs, two males and two females.
For each sex, one cub had normal spots and the other cub had black spots.
Deduce the genotype of the mother. Show your work in a Punnett grid.
44a. [1 mark]
Hemophilia is a disease where the blood does not clot properly. The pedigree chart below shows
the inheritance of this condition in a family.
Determine the genotype of person 1.
35
44b. [1 mark]
Deduce the genotype of the mother of person 2.
44c. [1 mark]
If person 3 has a son, and the father is a hemophiliac male, predict the son’s phenotype.
36
44d. [1 mark]
Suggest how sheep could be genetically modified to help the treatment of hemophilia in humans.
45a. [3 marks]
Predict the genotypic and phenotypic ratios of the possible offspring of a male hemophiliac and a
female carrier using suitable symbols for the alleles in a Punnett grid.
Genotypic ratio:
Phenotypic ratio:
45b. [2 marks]
Hemophilia is a disorder where the ability to control blood clotting or coagulation is impaired.
Describe the process of blood clotting.
37
46a. [1 mark]
Define the term allele as used in genetics.
46b. [1 mark]
List the possible genotypes for blood group B.
47. [2 marks]
Explain why carriers of sex-linked (X-linked) genes must be heterozygous.
38
48. [4 marks]
Many genetic diseases are due to recessive alleles of autosomal genes that code for an enzyme.
Using a Punnett grid, explain how parents who do not show signs of such a disease can produce a
child with the disease.
49. [8 marks]
Explain the inheritance of colour blindness.
50a. [4 marks]
Define codominant allele, recessive allele, locus and sex linkage.
39
50b. [6 marks]
ABO blood groups are inherited from parents, but it is possible for a child to have a different blood
group from either parent. Outline how this can happen using a Punnett grid.
50c. [8 marks]
Explain how males inherit hemophilia and how females can become carriers for the condition.
51a. [6 marks]
Factor IX is a blood clotting protein which some hemophiliacs lack. In the future hemophilia could
be treated using clotting factors synthesized by genetically
modified bacteria. Outline the basic technique used for this gene transfer.
40
51b. [8 marks]
Explain how males inherit hemophilia and how females can become carriers for the condition.
52a. [4 marks]
Distinguish between autosomes and sex chromosomes in humans.
52b. [6 marks]
Describe the inheritance of hemophilia including an example using a Punnett grid.
41
53. [5 marks]
Outline the inheritance of a named sex-linked condition in humans.
54. [7 marks]
Describe the role of sex chromosomes in the control of gender and inheritance of hemophilia.
Markscheme:
3.4
1. [1 mark]
2. [1 mark]
3. [1 mark]
42
4. [1 mark]
5. [1 mark]
6. [1 mark]
7. [1 mark]
8. [1 mark]
9. [1 mark]
10. [1 mark]
11. [1 mark]
12. [1 mark]
13. [1 mark]
14. [1 mark]
15. [1 mark]
43
16. [1 mark]
17. [1 mark]
18. [1 mark]
19. [1 mark]
20. [1 mark]
21. [1 mark]
22. [1 mark]
23. [1 mark]
24. [1 mark]
25. [1 mark]
26. [1 mark]
44
27. [1 mark]
28. [1 mark]
29. [1 mark]
30. [1 mark]
31. [1 mark]
32. [1 mark]
33. [1 mark]
34. [1 mark]
35. [1 mark]
36. [1 mark]
37. [1 mark]
38. [1 mark]
45
39. [1 mark]
40. [1 mark]
41. [1 mark]
42. [1 mark]
43a. [2 marks]
Award [1] for each correct row.
43b. [1 mark]
(alleles for blood groups) A and B / IA and IB
43c. [3 marks]
a. a correct representation of the alleles eg XN normal, Xn dark and Y;

b. Punnett grid including four cubs’ correct genotypes, showing sex linkage;
c. female genotype XN Xn;
Do not allow ECF.
Accept other suitable alternatives for Nn on the X.
44a. [1 mark]
X HY
46
44b. [1 mark]
X HX h
Apply ECF if upper case and lower case forms of another letter are used to correctly denote hemophilia
in female genotype.
44c. [1 mark]
normal (male) / not affected / no hemophilia

Do not accept XHY by itself, since question asks for phenotype.
44d. [1 mark]
genetically modify sheep to produce (blood) clotting factors (e.g. factor IX) in milk
45a. [3 marks]
correctly constructed Punnett square with correct gamete genotypes;
genotypic ratio: 1 XHXh : 1XhXh : 1 XHY : 1 XhY; (can be inferred from cells of Punnett square)
phenotypic ratio: 1 female hemophiliac : 1 female carrier/non-hemophiliac :

1 male hemophiliac : 1 male normal/non-hemophiliac / 50 % hemophiliac :
50 % non-hemophiliac;
Allow ECF. Award [2 max] if notation used does not indicate sex linkage, i.e. if cross is Hh×hh.
45b. [2 marks]
release of clotting factors from platelets/damaged cells;

conversion of prothrombin to thrombin;
47
thrombin catalyses the conversion of fibrinogen into fibrin;

(insoluble) fibrin (net) captures blood cells;
46a. [1 mark]
allele: one specific form of a gene (occupying the same gene locus as other alleles of the same gene)
46b. [1 mark]
IBIB and IBi
47. [2 marks]
carrier has (one copy of) a recessive allele;

must also have a dominant allele to prevent having the condition/disease;
or
cannot be homozygous dominant or they would not carry the recessive allele;
cannot be homozygous recessive or they would have the condition/disease;
48. [4 marks]
Key or text giving alleles with upper case for dominant allele and lower case for recessive
allele/allele causing disease
Reject key showing a sex linked gene such as hemophilia.

Reject if X or Y chromosomes are shown with the alleles.
Accept Aa or any other upper and lower case letters.
Punnett grid showing that both parents can pass on either a dominant or a recessive allele in their
gamete
For example row and column headings with A and a.

This mark can be awarded if X or Y chromosomes are shown but each parent has one recessive and
one dominant allele as if for autosomal inheritance.
Four possible genotypes for child correctly shown on grid
AA, Aa, aA and aa for example.

This mark can be awarded if X or Y chromosomes are shown but the genotypes are correct for
autosomal inheritance.
Double/homozygous recessive shown having the disease
48
Cannot be awarded with sex linkage.
25 % or 0.25 or 1/4 chance of inheriting the disease
This mark can be awarded if X or Y chromosomes are shown but the ratio is correct for autosomal
inheritance.
49. [8 marks]
a. colour blindness caused by recessive allele / colour blindness is recessive;

b. gene located on X chromosome/sex-linked;
c. Xb is allele for colour blindness and XB is allele for normal colour vision/dominant allele;
d. male has one X and one Y chromosome;
e. male has only one copy of gene(s) located on X chromosome;
f. X chromosome (in males) comes from female parent;
g. any male receiving allele from mother will express the trait;
h. XbY is genotype for colour blind male;
i. many more males have colour blindness than females;
j. female will express colour blindness only if is homozygous recessive/Xb Xb;
k. heterozygous/XB Xb female is a carrier;
l. colour blind female could be born to colour blind father and carrier mother;
Marks may be earned for use of annotated diagram/Punnett square to show points given above.
Accept use of letters other than B and b as long as capital letter is used for dominant and lower case
letter for recessive alleles. For using other improper notation (not showing X or Y), award [0] for the
first misuse and then apply ECF to additional notation as long as usage is consistent.
(Plus up to [2] for quality)
50a. [4 marks]
a. codominant allele: (pair of) alleles that both affect the phenotype when present in a heterozygote
/ both alleles are expressed;
b. recessive allele: an allele that produces its characteristic phenotype only when present in
homozygous state / is expressed when dominant allele not present;
c. locus: the (particular) position of a gene on a chromosome/homologous chromosomes;
d. sex linkage: a gene located on a sex chromosome/X/Y/X or Y chromosome;
49
50b. [6 marks]
Example / annotated Punnett grid showing a cross between blood groups showing:
a. parental genotype (for example IAi and IBi therefore A and B phenotypes);
b. gametes of one parent; (shown in Punnett grid)
c. gametes of other parent; (shown in Punnett grid)
d. genotypes of offspring; (shown in Punnett grid)
e. phenotypes of offspring expressed as a ratio or possibly in the Punnett grid;
f. blood group different to parent shown and identified (ie ii is blood group O);
Award [4 max] if correct notation not used.
Award [2 max] if Punnett grid is not used.
NB Other possible crosses could be used as long as the offspring include one or more offspring of a
different phenotype from either of the parents.
50c. [8 marks]
a. hemophilia is due to a recessive allele/is a recessive trait / XH is normal allele and Xh is

hemophilia allele;
b. hemophilia is sex linked;
c. allele/gene is on the X chromosome;
Reject disease/hemophilia carried on X chromosome.
d. (sex chromosomes in) females are XX while males are XY;
e. Y chromosomes do not have the allele/hemophiliac males are XhY;
f. males inherit their X chromosome from their mother/do not pass the allele to sons;
g. males have only one copy so recessive trait/allele is not masked;
h. males have a 50 % chance of hemophilia/receiving the allele if mother is a carrier;
i. carrier is heterozygous for the gene/is XHXh;
j. dominant/normal allele masks the recessive allele (so clotting is normal);
k. females inherit one X chromosome from father and one from mother;
l. affected/hemophiliac males have carrier daughters;
m. hemophilia allele could have been inherited from either parent;
Accept the points above explained either in text or clearly using a Punnett grid or genetic diagram but
not for simply reproducing an unlabelled Punnett grid or diagram without explanation.
50
51a. [6 marks]
Remember, up to TWO “quality of construction” marks per essay.
a. mRNA/gene coding for factor IX extracted from human cell/tissue;

b. mRNA copied to DNA/cDNA (using reverse transcriptase);
c. plasmids used (for gene transfer);
d. restriction enzyme/endonuclease used to open plasmid/cut DNA;
e. complementary bases/sticky ends on gene and plasmid/link gene to plasmid;
f. sealed using ligase;
g. recombinant plasmid/plasmid containing desired gene taken up by bacteria;
h. isolate/clone the recombinant/transformed bacteria;
i. bacteria cultured/grown in fermenter to produce factor IX;
51b. [8 marks]
Remember, up to TWO “quality of construction” marks per essay.
a. hemophilia is due to a recessive allele/is a recessive trait / XH is normal allele and Xh is

hemophilia allele;
b. hemophilia is sex linked;
c. allele/gene is on the X chromosome;
Reject disease/hemophilia carried on X chromosome.
d. (sex chromosomes in) females are XX while males are XY;
e. Y chromosomes do not have the allele/hemophiliac males are XhY;

f. males inherit their X chromosome from their mother/do not pass the allele to sons;
g. males have only one copy so recessive trait/allele is not masked;
h. males have a 50% chance of hemophilia/receiving the allele if mother is a carrier;
i. carrier is heterozygous for the gene/is XHXh;

j. dominant/normal allele masks the recessive allele (so clotting is normal);
k. females inherit one X chromosome from father and one from mother;
l. affected/hemophiliac males have carrier daughters;
m. hemophilia allele could have been inherited from either parent;
Accept the points above explained either in text or clearly using a Punnett grid or genetic diagram, but
not for simply reproducing an unlabeled Punnett grid or diagram without explanation.
51
52a. [4 marks]
X and Y chromosomes determine sex;

females XX and males XY;
X chromosome is larger than / carries more genes than the Y chromosome;
22 types/pairs of autosomes;
males and females have same types of autosomes;
52b. [6 marks]
sex-linked / due to gene on the X chromosome;

more common in males who only receive one X chromosome;
female is hemophilic if homozygous recessive / homozygous recessive normally fatal;
XH for dominant/normal allele and Xh for recessive/ hemophilia allele; (accept in Punnett
grid/square)
example in Punnett grid/square with correct parental genotype and gametes;
correct genotypes of offspring;
correct phenotype ratio or percentage;
half the males are hemophilic and half of the females are carriers / OWTTE;
Allow marks for correct genotypes if the alleles are not shown superscript on an X, as long as the Y
chromosome is indicated.
Do allow marking point d. if the letters for the dominant and recessive allele are not upper and lower
case versions of the same letter.
53. [5 marks]
genes that are located on just one of the sex chromosomes/X or Y are sex-linked;
(sex-linked) genes present on the X chromosome are absent from the Y chromosome / vice versa;
named recessive X-linked condition (e.g. colour blindness / haemophilia / other valid example);
sex-linked conditions tend to be more commonly expressed in males;
female can be homozygous or heterozygous/carrier for a sex-linked/X-linked condition;
52
affected males have only one copy of the gene / have carrier daughters but cannot pass the
condition on to sons;
carrier/heterozygous females can have affected sons/carrier daughters;
for a female to be affected (homozygous recessive) the father must be affected;
If the example used is of a recessive X-linked condition, use marking points c–h.
Make appropriate adjustments if the example is of a dominant X-linked trait or a Y-linked trait.
Accept any of the above points shown in a suitable diagram/chart/Punnett square/pedigree.
54. [7 marks]
two sex chromosomes are X and Y;

one sex chromosome inherited from each parent;
XX results in female;
XY results in male;
sex determined by sperm/father;
sex-linked genes are those located on the sex chromosomes / usually refers to genes on X
chromosome;
recessive sex-linked traits appear more frequently in males since they only have one X
chromosome;
hemophilia is an example of a gene located on the X chromosome/sex-linked;
female carriers are heterozygous / XHXh;
males with hemophilia are XhY / normal males are XHY;
sons (of carrier females) have 50 % probability of showing the trait (even if father is normal);
daughters (XhXh) of hemophiliac father and carrier mother can be affected / daughters who receive
an affected X from each parent will have hemophilia;
The points above can be gained by annotated Punnett squares.
Candidates may introduce a lettering system for haemophilia genotypes which does not include H and
h. Accept other letters for superscripts, but same alphabetical letter should be used throughout,
dominant form should appear as upper case letter and recessive as lower case letter.
Printed for Amman Baccalaureate School
© International Baccalaureate Organization 2017
International Baccalaureate® - Baccalauréat International® - Bachillerato Internacional®
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3.4 Theoretical Genetics

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Topic 3 core Rana Al Liddawi

3.4 Theoretical Genetics

Genotype: the alleles of a gene carried by an organism.

Phenotype: the expression of the gene; the characteristics of an organism.

Locus: the particular position of a gene on homologous chromosomes.

Homozygous: having two identical alleles of a gene.

Heterozygous: having two different alleles of a gene.

Pure breeding: has homozygous genotype.

Key points when solving genetics problems:

• Always provide a key indicating dominant and recessive.

• Mendel obtained quantitative data rather than qualitative data.

Gametes have only one allele of each gene

1. Choose a letter to show the alleles.

2. Determine the parents’ genotypes.

The three possibilities here are:

3. Determine the gametes that the parents could produce.

4. Draw a Punnett grid.

5. Work out the chances of each genotype and phenotype occurring.

F0 Phenotype: yellow peas X green peas Dominant: yellow (R)

Phenotype: all yellow

Phenotype: yellow peas X green peas

F2 Genotype: 50% Rr, 50% rr

Phenotype: 50% yellow, 50% green

Parent 1 Parent 2 Observed offspring ratio Expected offspring ratio

What is a genetic disease?

- A genetic disease is caused by a gene mutation.

1. Example of a genetic disease caused by an autosomal recessive allele:1. Cystic fibrosis

Possible genotype Possible phenotypes

The following are other examples of autosomal recessive diseases:

2. Example of a genetic disease caused by an autosomal dominant allele: Huntington's

Possible genotype Possible phenotypes

HDhd Huntington's disease

Some genes have more than two alleles (multiple alleles).

Describe ABO blood groups as an example of codominance and multiple alleles.

So the alleles for co-dominant flower color are:

The genotypes and their phenotypes are:

What are sex linked genes?

- Sex linked genes are those present on sex chromosomes in humans.

Define sex linkage.

Deduce the genotypes and phenotypes of individuals in pedigree charts.

• Squares represent males

How to know if the disorder is sex linked or not?

How to know if the disorder is dominant or recessive?

Question: what is a test cross?

Some possible causes of mutations, genetic diseases and cancer

- The effects of radiation can be studied using two incidents:

Essential idea: The inheritance of genes follows patterns

Applications and skills:

Phenotype O Genotype IiIi

Past papers questions 209-2016

A. In every gamete produced

B. Only in gametes carrying an X chromosome

C. In all brain cells

In a human with type A blood, what determines the blood group?

B. One or two alleles

A. In every gamete produced

B. Only in gametes carrying an X chromosome