Inheritance Booklet Updated
Inheritance Booklet Updated
Inheritance Booklet Updated
Genetics I: Inheritance
Name: ______________________
1
1. Define 'gametes'. Sex cells
2
2. How are gametes formed? Meiosis
23. Describe the cells produced by mitosis. 2 cells, genetically identical (clones).
3
24. By which cell division type does asexual Mitosis
reproduction rely on?
25. State one difference between asexual and A: no fertilisation/genetically identical offspring;
sexual reproduction. S: fertilisation/genetic variation
26. The genetic material in the nucleus of a cell
is…. DNA
A polymer made up of two strands forming a
27. Describe the structure of DNA. double helix.
28. Name the structure within which DNA is
contained. Chromosomes.
Once we have finished this topic, use this table to record your exam question marks and decide which
topics you need to revise!
Lesson Exam
Question
Marks
Lesson 1 – Meiosis /14
Lesson 1 – Meiosis
CHECKLIST! – Have you…
Read the notes and completed the recall questions
5
Marked your recall questions using the answers
Completed the exam questions
Key Words:
Meiosis A type of cell division which forms four non-identical gametes - the
chromosome number is halved from diploid to haploid.
Gametes A sex cell (sperm/pollen in males and ova/eggs in females).
Ovaries A female reproductive organ in which ova or eggs are produced, present in
humans and other vertebrates as a pair.
Testes One of two egg-shaped glands inside the scrotum that produce sperm and
male hormones. Also called testicle.
Anther The part of the stamen where pollen is produced.
Pollen Male sex (gamete) from flowering plants.
Daughter cells 1. A cell formed by the division of another.
Fertilisation The process where the nuclei of two haploid gametes fuses together to form
a new diploid cell (zygote)
Haploid A word used to describe a cell that has half the number of chromosomes e.g.
human gametes have 23
Diploid A word used to describe a cell that has the full set of chromosomes e.g. in
humans 46
Zygote A fertilised egg cell – the first cell formed after fertilisation
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Meiosis follows the same
steps as mitosis to start, but
once the daughter cells have
formed, they undergo a
second division. This results in
1 parent cell forming 4
gametes, each with half the
number of chromosomes as
an adult cell. We say these
cells have a haploid nucleus
because they have half the
number of chromosomes. In humans the haploid number is 23.
Meiosis also means the offspring will all be different from each other and their parents as they have a
unique combination of genes from both parents, so they are not identical. This leads to variation within
the population.
Recall questions: Answer these in your book, use the information above to help you
9. How many divisions does a cell undergo in meiosis?
10. State the three key steps in meiosis.
11. Describe the product of meiosis.
12. How many chromosomes are there in a human gamete?
Part 3 - Explain the importance of meiosis for fertilisation to occur
Information: Read the following notes
Fertilisation occurs
when two gametes fuse
(join). At this stage the
first cell of a new
organisms has been
formed, called a
zygote, with the correct
number of
chromosomes (a
diploid nucleus, 46
chromosomes). This
one cell then divides (by mitosis) before differentiating into all the specialised cells that make up an
organism.
Meiosis is important because if gametes didn’t have half the number of chromosomes, they wouldn’t be
able to fuse during fertilisation to make an embryo with body cells that had the full number of
chromosomes needed in each cell.
Recall questions: Answer these in your book, use the information above to help you
13. Name the process where a sperm and an egg cell fuse together.
14. Explain why meiosis is necessary for fertilisation to occur?
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15. Name the cell type formed by fertilisation (fusion of male and female gametes).
16. When a new cell is formed through fertilisation, how does it divide?
Exam question practice: Answer these on this sheet, use the answers to your recall questions to help you
Q1. Diagram 1 shows the nucleus of a cell at the start of meiosis.
Diagram 1
___________________________________________________ (1)
(b) During meiosis, the nucleus shown in diagram 1 will divide twice to
form four nuclei.
Diagram 2 (2)
Q2. (a) Gametes (sex cells) contain half the amount of DNA compared to body cells.
___________________________________________________________________
(1)
(c) The diagram below shows cell division by meiosis to form gametes.
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Which two features in the diagram above show that this cell division is meiosis and not
mitosis?
___________________________________________________________________
___________________________________________________________________
___________________________________________________________________
___________________________________________________________________ (2)
Q4. The diagram shows some of the cell divisions that occur during human reproduction.
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(a) (i) Name the type of cell division that produces cell D from cell B.
______________________________________________________________
(1)
(ii) Which organ in the male body produces cell C from cell A?
______________________________________________________________
(1)
______________________________________________________________
______________________________________________________________
______________________________________________________________ (2)
Asexual reproduction only needs one parent. Asexual reproduction produces offspring that are genetically identical
to each other, and their parents – they are clones of each other. This is because in asexual reproduction, there is no
mixing of genetic information. Examples include: Mitosis, binary fission in bacteria, and some plants can create
clones of themselves by producing side shoots which can then grow into new plants e.g. strawberries or by
producing tubers or bulbs (underground storage organs) that can regrow into a new plant after winter e.g. potatoes
and onions.
A disadvantage of asexual reproduction is that there is no genetic variation as all offspring are clones – this can
make them more susceptible to environmental change or disease
In sexual reproduction genes are mixed to produce variation in the offspring. This is because offspring inherit half
their chromosomes from each parent. The best solution is to be able to do both forms of reproduction.
Recall questions: Answer these in your book, use the information above to help you
1. Define 'mitosis'.
2. Which type of reproduction is based only on mitosis?
3. Define 'cloning'.
4. By which cell division type does cloning occur?
5. What are the advantages of asexual reproduction?
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Information: Read the following notes
Genetic information All of genes passed on – Half of genes from each parent
inherited by offspring genetically identical clones passed on
Genetic variation in No – all offspring are clones of Yes – offspring are genetically
offspring parent and each other because different to parent and each other
there is no mixing of genes because genes from two parents are
mixed.
Recall questions: Answer these in your book, use the information above to help you
6. Describe the cells produced by meiosis.
7. Describe the cells produced by mitosis.
8. By which cell division type does asexual reproduction rely on?
9. State one difference between asexual and sexual reproduction.
Worksheet questions: Answer these in your book, use the information above to help you
Mitosis
Mitosis Meiosis
Exam question practice: Answer these on this sheet, use the answers to your recall questions to help you
For each feature in the table, tick ( ) one box to show if the feature occurs:
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• only in mitosis
• only in meiosis.
Only in Only in
Feature mitosis mitosis
( ) ( )
(2)
(ii) Name the organ that produces gametes (sex cells) in:
a man ______________________
a woman ____________________
(2)
Q2. Meiosis and mitosis are different types of division in human cells. Compare the two processes by
referring to where each takes place and the kind of products that are made.
_______________________________________________________________________
_______________________________________________________________________
_______________________________________________________________________
_______________________________________________________________________
_______________________________________________________________________
_______________________________________________________________________
_______________________________________________________________________
_______________________________________________________________________
_______________________________________________________________________
_______________________________________________________________________
(Total 6 marks)
Q3. Starfish can split in half. Each half can then grow new
arms to form offspring.
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(a) What process produces the starfish offspring?
Tick one box.
Asexual reproduction
Fertilisation
Selective breeding
Sexual reproduction
(1)
(b) More cells are produced as the starfish grows more arms.
What process will produce more cells in the starfish as they grow?
___________________________________________________________________
(1)
___________________________________________________________________
(1)
___________________________________________________________________ (1)
___________________________________________________________________
___________________________________________________________________
___________________________________________________________________
___________________________________________________________________ (3)
Q5. The bean aphid is a type of black-fly which lives on broad bean plants in summer.
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In the autumn, males and females mate and produce eggs.
___________________________________________________________________
(1)
(b) In spring these eggs hatch. The young aphids are all female.
Explain why they are all similar but not identical to each other.
___________________________________________________________________
(1)
(c) These females are then able to produce offspring without needing any males.
(i) Name the type of reproduction where females do not need males to produce
offspring.
______________________________________________________________
(1)
______________________________________________________________
______________________________________________________________ (2)
___________________________________________________________________
___________________________________________________________________
___________________________________________________________________(3)
Lesson 3 – DNA and the Genome
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CHECKLIST! – Have you…
Read the notes and completed the recall questions
Marked your recall questions using the answers
Completed the exam questions
Key Words:
Polymer A large molecule formed from many identical smaller molecules known as
monomers.
DNA DNA stands for deoxyribonucleic acid. DNA carries genetic information. It has all the
instructions that a living organism needs to grow, reproduce and function.
Gene A short section of DNA that codes for a protein
Genome An organisms complete set of genetic information (in every cell)
Chromosomes The structure that DNA is organised into – humans have 23 pairs of chromosomes in
the nucleus
Nucleus The nucleus controls what happens inside the cell. Chromosomes are structures
found in the nucleus of most cells. The plural of nucleus is nuclei.
Double helix The shape of the DNA molecule which has two strands twisted together in a spiral
The code formed by the order of the bases in DNA that determines an organism's
Genetic Code
characteristics.
DNA is a polymer made up of two strands forming a double helix (‘Double’ = two strands ‘Helix’ = twisted
around each other).
The two strands are held together by chemicals called ‘bases’. DNA is a chemical which contains genetic
information or the “code for life”, small sections of the DNA called genes code for a particular sequence of
amino acids in order to make a specific
protein.
An organisms complete set of genetic
information (in every cell) is called its
genome.
Recall questions: Answer these in your book, use the information above to help you
Recall questions: Answer these in your book, use the information above to help you
10. State 3 ways in which understanding of the human genome will be important.
Exam question practice: Answer these on this sheet, use the answers to your recall questions to help you
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Q1. When scientists look at dividing cells under a microscope, they can see strands that contain a chemical
called DNA.
(a) What name is given to the strands containing DNA shown in the diagram?
Q2. The diagram shows a human cell and some of its contents.
(3)
In the cell above, the chromosomes are found in pairs so this cell must be
__________________________________________________________________
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Q3. DNA is the genetic material of human cells.
______________________________________________________________
______________________________________________________________
______________________________________________________________(2)
(ii) When a cell divides by mitosis the new cells are genetically identical.
______________________________________________________________
______________________________________________________________ (1)
Q4. Marfan syndrome is a rare genetic disorder that causes problems with many body systems.
(1)
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(b) What does a gene code for? Tick one box.
A carbohydrate polymer
(1)
(c) What scientific term is used to describe all the genes of one organism?
___________________________________________________________________
(1)
Q5. Diagram 1 shows an animal cell and some of the structures inside the cell.
(a) Label
structures
A, B and C,
on
Diagram 1
(3)
Q6. Proteins are made according to information stored in the DNA structure of genes.
___________________________________________________________________
___________________________________________________________________
___________________________________________________________________
___________________________________________________________________
(2)
___________________________________________________________________
___________________________________________________________________
___________________________________________________________________
___________________________________________________________________ (2)
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Lesson 4 – Genotype and Phenotype
CHECKLIST! – Have you…
Read the notes and completed the recall questions
Marked your recall questions using the answers
Completed the exam questions
Key Words:
Alleles Different form of the same gene
Characteristics A characteristic is an observable (can see it or measure it) quality, trait or feature of an
individual e.g. hair colour, eye colour, flower colour, leaf shape.
Dominant An allele that always expresses itself whether it is it is partnered by a recessive allele or by
another like itself.
Recessive Describes the variant of a gene for a characteristic which is masked or suppressed in the
presence of the dominant variant. A recessive gene will remain dormant unless it is paired with
another recessive gene.
Genotype The alleles that an organism has for a particular characteristic, usually written as letters.
Phenotype The visible characteristics of an organism which occur as a result of its genes.
Recall questions: Answer these in your book, use the information above to help you
1. What is an allele?
2. What is a genotype?
3. What is a phenotype?
There are two copies of every chromosome in a body cell nucleus (one copy inherited from the mother the other
copy inherited from the father).
Therefore, there are two copies of every gene. These may have different alleles and the combination of the two
alleles (the genotype) determines the characteristic (the phenotype).
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In this example there is a gene for flower colour, this plant has
two copies of the flower colour gene one on each chromosome.
This plant has two different alleles (versions of the flower colour
gene) one allele codes for purple petals the other codes for white
petals.
Recall questions: Answer these in your book, use the information above to help you
4. What percent of your chromosomes have you inherited from your father?
5. What is the word used to describe the alleles an organism has for a gene?
6. What word describes the physical characteristics an organism has?
For most genes, one allele is said to be dominant and the other recessive. Only one dominant allele needs to be
present for the dominant phenotype to be expressed. This means individuals that have two dominant alleles OR one
dominant and one recessive allele will express the dominant phenotype. Two copies of recessive alleles need to be
present for the recessive phenotype to be expressed. Due to this relationship, we often refer to the alleles using the
same letter, the dominant in UPPER case and the recessive in lower case e.g. “B” is dominant, “b” is recessive.
For example: In the gene for flower colour purple is the dominant allele, so our code is P= purple and p=white
Pp Purple Flowers
Dominant and Recessive
Alleles
pp White Flowers
Recessive Alleles only
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Organisms which have two copies of a recessive allele and show the recessive phenotype cannot pass on any
dominant alleles to their offspring unless they sexually reproduce with a mate that has dominant alleles. E.g. two
plants with white flowers cannot produce plants with purple flowers but one white plant could reproduce with a
purple plant and their offspring would have purple flowers. You can use this as evidence to tell if a characteristic is
dominant or recessive!
Recall questions: Answer these in your book, use the information above to help you
7. What does the term “dominant” mean when used to describe an allele?
8. Give an example of a dominant genotype using the letter G.
9. What does the term “recessive” mean when used to describe an allele?
10. Give an example of a recessive genotype using the letter G.
11. How can you identify if a characteristic or phenotype is recessive?
Exam question practice: Answer these on this sheet, use the answers to your recall questions to help you
Q1. A mouse will always have black fur if one or two black fur alleles are inherited.
What word describes the black fur allele? Tick one box.
Dominant
Recessive
Heterozygous
Homozygous
(1)
Q2. (i) describe the difference between dominant and recessive alleles;
______________________________________________________________
______________________________________________________________
______________________________________________________________ (2)
______________________________________________________________
______________________________________________________________
______________________________________________________________ (2)
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Q3. In humans, hair colour is an inherited characteristic. Red hair is caused by a recessive allele.
(a) When does a recessive allele control the development of a characteristic? (1)
Cause of variation
Brown eyes
Short hair
(3)
BB Bb bb
(1)
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(c) The woman marries a man with the alleles Bb for eye colour.
___________________________________________________________________
(1)
(d) What is the scientific term used for the child’s eye colour?
Tick one box.
Chromosome
Condition
Genotype
Phenotype
(1)
Q5. Wild turkeys have black feathers. Until about 30 years ago turkeys reared for meat also had black
feathers.
However, a recessive gene which produced entirely white feathers appeared, and
turkey farmers changed to breeding white-feathered birds.
Now, however, there is a demand again for birds with black feathers which can
be marketed as ‘traditional’ farm-produced turkeys.
(i) Suggest suitable symbols for each of the two alleles of this pair of genes.
(ii) What alleles for feather colour would a white turkey have? ______________ (1)
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(b) Explain carefully why ‘traditional’ black-feathered turkeys could not be bred from a flock
of white-feathered birds.
___________________________________________________________________
___________________________________________________________________ (2)
Q6. Pompe disorder is an inherited condition that affects thousands of people, it is caused by the GAA
gene.
___________________________________________________________________
(1)
Pompe disorder is caused by a recessive allele. r is the recessive allele and R is the dominant
allele
_________________________________________ (1)
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Lesson 5 - Genetic Inheritance and Sex Determination
CHECKLIST! – Have you…
Read the notes and completed the recall questions
Marked your recall questions using the answers
Completed the exam questions
Key Words:
Heterozygous This describes a genotype in which the two alleles for a characteristic are different.
Homozygous This describes a genotype in which the two alleles for the characteristics are identical.
Punnet Square A grid that shows the possible combinations of alleles that can result at fertilisation.
If the two alleles of a gene are the same, the individual is described as homozygous. Example: BB or bb
If two alleles of a gene are different, the individual is described as heterozygous. Example: Bb
Example: The gene for flower colour in pea plants has two alleles, purple and white.
The purple allele is represented by “P” and the white allele by “p”.
Recall questions: Answer these in your book, use the information above to help you
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1. What does the term “heterozygous” mean?
2. What does the term “homozygous” mean?
Part 2: Use Punnett squares to predict and interpret the results of a genetic cross.
Information: Read the following notes Parent 1 Parent 1
allele 1 allele 2
A Punnett square can be used to perform a genetic cross to work Parent
Offspring Offspring
2
out the probability of a certain allele being present in the offspring allele
alleles alleles
chance 1 chance 2
1
of two parents each time they reproduce. The information in a
Parent Offspring Offspring
punnet square is labelled here. 2
alleles alleles
allele
chance 3 chance 4
2
Remember - Probability means 'how likely' or 'what chance' -
normally a fraction or a % example: ¼, 0.25 or 25%
In this example using our Pp alleles for purple and white flowers again:
Genotypes
¼ or 25% chance of the homozygous dominant PP
½ or 50% chance (2x 25%) of the heterozygous Pp
¼ or 25% chance of the homozygous recessive
Phenotypes
¾ or 75% chance of having purple flowers (as it is dominant)
¼ or 25% chance of having white flowers (as it is recessive)
We can use a punnet square to show that the probability of getting a girl or a boy each time an embryo is
fertilised is always 50%.
Mother
Recall questions: Answer these in your book, use the
information above to help you
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1. What is an allele?
2. How many alleles of each gene does a person have?
3. Circle the alleles which represent a person who is heterozygous:
Aa aa aA AA
4. What does homozygous mean?
5. Look at the genetic cross diagram:
a. Complete the diagram to show the alleles for each
box
b. Is person 3 heterozygous or homozygous?
c. Why does Person 3 have red hair?
d. Draw a ring around the boxes which show the
alleles for children with red hair.
e. What is the probability that one of the children will
have red hair?
Silver:
1. Why does a person usually inherit two alleles of each gene?
2. A mouse will always have black fur if one or two black fur alleles are inherited. What word best
describes the black fur allele?
3. Some humans are albino (they have white hair and pale skin). This condition is caused by a
recessive allele, n. The other allele, N, causes pigment to be made. There are three possible
combinations of these alleles: NN, Nn or nn.
a. Which one of these combinations will an albino person have?
b. Two non-albino parents can sometimes have an albino child.
Which combination of alleles must the two parents have for
this to happen? Tick one box:
Gold:
1. The allele for blue eyes is recessive (b) and the allele for brown eyes is dominant (B).
a. A woman has blue eyes what are her alleles?
b. The woman would like to have a baby with a homozygous brown eyed man. Draw a
Punnett square diagram to show the alleles for eye colour for their offspring.
c. What is the probability that one of their children will have brown eyes? Can you explain
your answer?
Exam question practice: Answer these on this sheet, use the answers to your recall questions to help you
Q1. The allele for blue eyes is recessive (b). The allele for brown eyes is dominant (B).
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A woman has blue eyes. What are the woman’s alleles?
BB Bb bb
(1)
(d) Complete the Punnett square diagram in Figure 2 for this man and the woman. (1)
Figure 2 Woman
___________________________________________________________________
(1)
Q2. Two black mice both have one black fur allele (B) and one brown fur allele (b).
(f) Complete the genetic diagram below to show the possible offspring of these mice.
Parent 1
B b
B BB Bb
Parent 2
b bb
(1)
(g) On the diagram above draw a ring around one offspring with brown fur. (1)
(h) What is the chance of the offspring from the two black mice being brown?
___________________________________________________________________ (1)
Challenge:
(2)
(ii) One of the offspring is dominant homozygous. What is the chance of this occurring?
___________________________________________________________________ (1)
______________________________________________________________(1)
(ii) Why can vestigial-winged flies only have the genotype aa?
______________________________________________________________
(1)
(b) A male and a female long-winged fly were crossed. They produced 96 offspring.
72 of the offspring had long wings and 24 had vestigial wings.
Use a genetic diagram to explain this.
(4)
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Read the notes and completed the recall questions
Marked your recall questions using the answers
Completed the exam questions
Key Words:
Polydactyly Polydactyly is a genetic disorder caused by a dominant allele. People born with
polydactyly have extra fingers or toes.
Cystic fibrosis Cystic fibrosis is a genetic disorder caused by 2 recessive alleles.
Embryo A ball of cells formed after fertilisation that undergoes mitosis to grow and form a
foetus.
Mutation A change to the DNA base sequence.
Part 1 - State (at least) two inherited disorders (cystic fibrosis and polydactyly)
Information: Read the following notes
Organs such as the lungs can become clogged up, this makes breathing harder and increases their chance
of getting chest infections due to build-up of dust and dirt. Their pancreatic duct can also be blocked,
resulting in less digestive enzymes making their way into the small intestine. This can reduce the amount of
nutrients they can get from their food – this often leads to them being underweight.
It cannot be cured as it is a genetic disorder, but it can be treated to help reduce symptoms. Physiotherapy
can help keep area’s clear of mucus and antibiotics are used to prevent infection. Later in life a lung
transplant may be needed.
Cystic fibrosis is a recessive genetic disorder (only people who are homozygous recessive (have two copies
of the recessive allele) for the cystic fibrosis gene have the disorder).
Part 2: Describe the difference in inheritance patterns for dominant/recessive allele disorders.
Information: Read the following notes
Cystic fibrosis is caused by a recessive allele. This means that only homozygous recessive people are
suffering from the disorder and heterozygous people are completely normal, but they have a chance of
having a child which suffers from it. They are known as carriers.
To the right is the Punnett square for a cross between two heterozygous carriers. C= healthy, c= cystic
fibrosis
In this example:
Genotypes
25% chance of the homozygous dominant CC
50% chance of the heterozygous Cc
25% chance of the homozygous recessive cc
Phenotypes
25% of being unaffected CC
50% of having no symptoms but being a carrier
Cc
25% chance of suffering from cystic fibrosis cc
(circled)
Polydactyly is caused by a dominant allele. This means that only one parent needs to pass on the faulty
allele for the child to suffer from polydactyly, So a homozygous dominant parent is guaranteed to have a
polydactyly child and a heterozygous parents will have a chance of having one.
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To the right is a Punnett square showing the chances of having child with polydactyly when one parent
with the disorder mates with a homozygous recessive partner.
In this example:
Genotypes
25% chance of the homozygous dominant PP
50% chance of the heterozygous Pp
25% chance of the homozygous recessive pp
Phenotypes
75% chance of having polydactyly (circled)
25% chance of being unaffected
Recall questions: Answer these in your book, use the information above to help you
7. What is cystic fibrosis?
8. Is cystic fibrosis a dominant or recessive condition?
9. State the genotype(s) that would result in cystic fibrosis.
Genetic testing involves analysis of a person's DNA to see if they carry alleles that cause genetic disorders. It can be
done at any stage in a person's life. If people know they are carriers of a genetic disorder and they would like to have
children but not pass on the alleles that cause their genetic disorder they can have their embryos screened before
pregnancy occurs.
Pre-implantation genetic diagnosis (PGD) or embryo screening can be used on embryos before placing them into
the uterus of the mother. Fertility drugs stimulate the release of several eggs. The eggs are collected and fertilised
with sperm in a Petri dish. This is known as in vitro fertilisation (IVF).
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The main advantage of screening is it allows parents the ability to have healthy children without the disorder or they
can make an informed choice to continue or terminate a pregnancy.
Testing can cause miscarriage by damaging the embryo or cause harm to the mother or unborn foetus (if
done during pregnancy)
People can be against these tests for moral and religious reasons. Some people have a strong belief that it is
immoral or unethical to destroy embryos or terminate foetuses which could have lived.
The tests are often expensive, and the results are not always reliable
Recall questions: Answer these in your book, use the information above to help you
Exam question practice: Answer these on this sheet, use the answers to your recall questions to help you
______________________________________________________________
______________________________________________________________
(1)
(ii) Why do some people believe that embryos should not be screened?
______________________________________________________________
______________________________________________________________ (1)
Mr and Mrs Brown do not have cystic fibrosis but they have a child with cystic fibrosis.
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(a) Draw a ring around the correct answer to complete each sentence.
(1)
(1)
(b) The diagram shows how the allele for cystic fibrosis can be inherited by Mr and Mrs
Brown’s children.
(i) Give the number of one person in the diagram who has
(ii) The chance that Mr and Mrs Brown's next child will have cystic fibrosis is
_____________________________________________________________ (1)
(c) A genetic counsellor describes to Mr and Mrs Brown one way of screening embryos for
cystic fibrosis.
• Some eggs are collected from Mrs Brown.
• The eggs are then fertilised in a dish.
• Several embryos may start to develop.
The photograph shows how doctors take one cell from each embryo when it is only 3
days old.
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©Pascal Goetgheluck/Science Photo Library
• The DNA in the cell from each embryo is tested for cystic fibrosis.
• Doctors select one embryo that is unaffected and place it in Mrs Brown’s uterus.
Use the information to suggest one advantage and one disadvantage of screening
embryos in this way.
Advantage __________________________________________________________
___________________________________________________________________
Disadvantage _______________________________________________________
___________________________________________________________________
(2)
(a) The figure below shows the hand of a man with polydactyly. The man has an extra finger
on each hand.
The man’s mother also has polydactyly, but his father does not.
Explain how the information given above shows that the man is
heterozygous for polydactyly.
______________________________________________________________
______________________________________________________________
______________________________________________________________
______________________________________________________________ (3)
(ii) The man marries a woman who does not have polydactyly.
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What is the probability that their first child will have polydactyly?
______________________________________________________________
(1)
Q4. To avoid having another child with CRAM, persons 7 and 8 may decide to use embryo screening.
The DNA in the cell can then be tested. An unaffected embryo can be implanted in the woman’s
uterus. The possibility of a false positive result is around 1 in 6. The procedure costs about £6000.
Affected embryos would be discarded. Extra unaffected embryos might be frozen and kept for later
implantation. Alternatively, the extra embryos might be used in scientific research.
CVS involves taking a sample of blood from the placenta a few weeks into pregnancy. DNA from
white blood cells can then be tested.
If an affected embryo is detected, the parents then have to decide whether to terminate the
pregnancy or allow it to continue.
CVS has a 1 percent chance of giving an incorrect result and a 0.9 percent chance of causing a
miscarriage. CVS costs about £600.
______________________________________________________________
______________________________________________________________
______________________________________________________________
______________________________________________________________
______________________________________________________________
______________________________________________________________
______________________________________________________________
______________________________________________________________ (5)
Genetic diagram/family A diagram which shows the inheritance of a genetic condition in a family
tree/Pedigree Chart across generations.
Example: Seed colour in peas is controlled by a single gene which has two alleles. A represents the
dominant allele, and a represents the recessive allele.
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Part 2: Explain the phenotypes or ratios of offspring using evidence from a genetic diagram or ‘family
tree’
You can determine if the allele for a characteristic or disorder is dominant or recessive using a family tree
diagram. If all children/offspring have the
characteristic/disorder, then there is a strong
chance the allele for it is dominant.
With the flower colour diagram you can see that recessive inherited characteristics or traits have the ability
to skip generations as there are no white flowers in the second generation of plants.
Worksheet questions: Answer these in your book, use the information above to help you
Bronze:
The colour of the seeds is controlled by a gene. The
gene has two alleles, purple and yellow. The allele for
purple can be represented by the letter A. The allele for
yellow can be represented by the letter a.
1. All of the first-generation offspring are purple
what does this tell you about the purple allele?
2. What alleles does a yellow seed plant have?
AA Aa aa
3. What will the alleles of the first-generation
plants be? Use a Punnett square to help you.
4. The second generation of plants had a mixture
of yellow and purple seeds. Can you explain
why?
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Silver:
People have different shaped ear lobes, either ‘hanging’ or ‘attached’. A gene controls the shape of a
person’s ear lobes. Parents A and B both have hanging ear lobes.
1. Draw the symbol for a
female with attached
ear lobes to complete
the key.
2. What does the diagram
tell you about the allele
for hanging ear lobes? Explain your answer.
Pompe disorder is an inherited condition that affects thousands of people. R is the allele for no Pompe
disorder and r is the allele for Pompe
disorder.
1. What is the genotype of person
2?
2. Explain how we can tell Pompe
disorder is caused by a recessive
allele
3. Person 6 and 7 decide to have another child. What is the probability of 6 and 7 having another child
with Pompe disorder?
Gold:
A scientist investigated inheritance in pea plants. The scientist crossed tall pea plants with short pea plants.
T = allele for tall and t = allele for short
1. What alleles does plant 1 contain?
2. What will the ratio of tall : short
offspring be in the second
generation?
3. Two short plants were crossed.
This cross produced 100 offspring.
How many tall and short plants
will there be?
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Exam question practice: Answer these on this sheet, use the answers to your recall questions to help you
Q1. The family tree shows the inheritance of a disorder caused by a dominant allele.
(i) Use the key to draw the symbol for Harriet next to
her name on the family tree. (2)
(ii) The symbol D represents the dominant allele for the disorder.
The symbol d represents the recessive allele. Fiona has the pair of alleles dd.
Write the correct pairs of alleles in the boxes.
(3)
Q2. The diagram shows a family tree in which some individuals have an inherited disorder, which may
cause serious long-term health problems.
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(a) What proportion of the children of A and B have the disorder?
___________________________________________________________________ (1)
______________________________________________________________(1)
______________________________________________________________ (1)
(iii) Give evidence from the diagram that CRAM is caused by a recessive allele.
______________________________________________________________
______________________________________________________________ (1)
(b) (i) Person 2 is homozygous for CRAM. What does homozygous mean?
______________________________________________________________
______________________________________________________________
(1)
Explain why.
______________________________________________________________
______________________________________________________________
______________________________________________________________ (2)
Hard:
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Q1. The diagram shows a family tree in which some individuals have an inherited disorder, which may
cause serious long-term health problems.
___________________________________________________________________ (1)
(b) Explain the evidence from the diagram which shows that the allele for the disorder is
dominant.
___________________________________________________________________
___________________________________________________________________
___________________________________________________________________
___________________________________________________________________
(3)
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