Exam code: 3430
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Describe the structure of a DNA molecule.
Two long chains of alternating sugar and phosphate molecules, connected by bases.
The two chains are twisted to form a double helix.

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Define double helix.
The twisted ladder shape formed by two strands of DNA wound around each other.
What forms the 'backbone' of each DNA strand?
Alternating sugar and phosphate molecules, which make up the sides of the 'ladder'.
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Describe the structure of a DNA molecule.
Two long chains of alternating sugar and phosphate molecules, connected by bases.
The two chains are twisted to form a double helix.
Define double helix.
The twisted ladder shape formed by two strands of DNA wound around each other.
What forms the 'backbone' of each DNA strand?
Alternating sugar and phosphate molecules, which make up the sides of the 'ladder'.
How many types of base are there in DNA, and what are their letters?
There are four types of base: A, T, C and G.
What does the order of bases in DNA determine?
It forms a code for making proteins.
It determines the order in which amino acids are linked together to form different proteins.
State the rules of complementary base pairing.
A always pairs with T
C always pairs with G
A DNA strand reads A-T-C-G-G. What is the complementary strand?
T-A-G-C-C
The two strands of DNA are twisted around each other to form a ________.
The two strands of DNA are twisted around each other to form a double helix.
True or False?
DNA is found in the cytoplasm of the cell.
False.
DNA is found in the nucleus, in structures called chromosomes.
Name the four bases found in DNA. (Higher Tier Only)
Adenine (A)
Thymine (T)
Cytosine (C)
Guanine (G)
Which base pairs with adenine, and which pairs with cytosine? (Higher Tier Only)
Adenine pairs with thymine
Cytosine pairs with guanine
The base adenine always pairs with the base ________. (Higher Tier Only)
The base adenine always pairs with the base thymine.
True or False?
Guanine pairs with thymine. (Higher Tier Only)
False.
Guanine pairs with cytosine. Thymine pairs with adenine.
Why is complementary base pairing important?
It holds the two strands together in the double helix, and it allows DNA to be copied accurately for protein synthesis and cell division.
Define gene. (Higher Tier Only)
A sequence of nucleotide bases in DNA that codes for a specific sequence of amino acids, which in turn makes up a specific protein.
Define triplet code. (Higher Tier Only)
The three-base code in DNA, in which each sequence of three bases codes for one amino acid.
How many bases code for one amino acid? (Higher Tier Only)
Three. This is why it is called the triplet code.
How many different amino acids do cells use to make proteins? (Higher Tier Only)
20.
What does it mean to say the genetic code is universal? (Higher Tier Only)
Almost every organism uses the same code, so the same triplets code for the same amino acids in all living things.
Why does a universal genetic code matter? (Higher Tier Only)
It means genetic information is transferable between species, which is what makes techniques such as gene transfer possible.
Where in the cell does protein synthesis take place? (Higher Tier Only)
In the cytoplasm.
Why must the triplet code be carried out of the nucleus by another molecule? (Higher Tier Only)
DNA is too large to leave the nucleus.
A smaller molecule carries a copy of the code to the cytoplasm, where the protein is made.
Each sequence of three bases in DNA codes for one ________. (Higher Tier Only)
Each sequence of three bases in DNA codes for one amino acid.
Protein synthesis takes place in the ________ of the cell. (Higher Tier Only)
Protein synthesis takes place in the cytoplasm of the cell.
True or False?
DNA leaves the nucleus to take part in protein synthesis. (Higher Tier Only)
False.
DNA is too large to leave the nucleus. A smaller molecule carries a copy of the code instead.
True or False?
A sequence of 12 bases would code for 4 amino acids. (Higher Tier Only)
True.
Each amino acid is coded for by three bases, so 12 ÷ 3 = 4 amino acids.
Explain how the order of bases in a gene determines the protein produced. (Higher Tier Only)
Each triplet of bases codes for one amino acid.
The order of triplets therefore sets the order of amino acids in the chain, and that order determines which protein is made.
Define genetic profiling.
A technique that cuts DNA into short pieces and separates them into bands, producing a pattern that is unique to an individual.
Describe the stages of producing a genetic profile.
Obtain the DNA from a sample such as hair root, blood, semen or saliva.
Use enzymes to cut the DNA into fragments of different sizes.
Separate the fragments using gel electrophoresis.
Treat the gel so the fragments show up as bands, then analyse the pattern.
What is used to cut the DNA into fragments?
Enzymes.
Why are the DNA fragments a different size for each person?
Because every person's DNA sequence is unique, so the enzymes cut it in different places.
Describe how gel electrophoresis separates DNA fragments.
The DNA is suspended in a gel and an electric current is passed through it.
DNA is negatively charged, so it moves towards the positive end.
Smaller fragments travel faster and further than larger ones.
Why does DNA move towards the positive electrode?
DNA carries a negative charge, and opposite charges attract.
Which fragments travel furthest through the gel, and why?
The smallest fragments.
They move more easily through the gel, so they travel faster and further than larger fragments.
Name four sources from which a DNA sample can be obtained.
The root of a hair
A spot of blood
Semen
Saliva
DNA fragments are separated by size using ________.
DNA fragments are separated by size using gel electrophoresis.
________ are used to cut DNA into fragments of different sizes.
Enzymes are used to cut DNA into fragments of different sizes.
True or False?
Everybody has a genetic profile that is unique to them.
True, with one exception.
Identical twins share the same DNA and so have the same genetic profile.
True or False?
Larger DNA fragments travel furthest through the gel.
False.
Smaller fragments travel faster and further. Larger fragments stay nearer the start.
What does the final genetic profile look like?
A pattern of bands, each band representing DNA fragments of a particular size.
Why are two people who are closely related likely to have similar profiles?
They share more of their DNA sequence, so the enzymes cut their DNA in similar places and produce similar band patterns.
How are two DNA samples compared using genetic profiling?
The patterns of bands produced by each sample are compared.
The more bands they have in common, the more similar the two samples are.
Name three uses of genetic profiling.
Criminal cases, to identify suspects
Paternity cases, to identify a child's father
Classification, to compare how closely related two species are
Whose profiles are needed in a paternity investigation?
All three of the mother, the child and the alleged father.
State the rule used to interpret a paternity DNA profile.
Every band in the child's profile must appear in either the mother's or the father's profile.
If a band appears in neither, that man is not the father.
A band appears in the child's profile but not the mother's. What does this tell you?
The child must have inherited that band from the father, so it must be present in the true father's profile.
Describe how DNA profiling is used in a criminal investigation.
Samples of body cells or fluids are taken from the crime scene or victim.
The DNA is extracted and profiled.
The profile is compared with samples from suspects, the victim, and control samples from people with no connection to the crime.
Why must care be taken when collecting DNA samples at a crime scene?
To avoid contamination of the samples, which would make the profile unreliable.
Give two forensic uses of DNA profiling other than identifying a culprit.
Identifying bodies or body parts that are otherwise unidentifiable
Eliminating innocent people whose DNA happens to be at the scene
How is genetic profiling used in the classification of species?
The more similar the genetic profiles of two species, the more closely related they are and the more recent their common ancestor.
The more similar the genetic profiles of two species, the more closely ________ they are.
The more similar the genetic profiles of two species, the more closely related they are.
In a paternity test, any band in the child's profile must appear in the mother's or the ________ profile.
In a paternity test, any band in the child's profile must appear in the mother's or the father's profile.
True or False?
The suspect whose profile shares the most bands with the crime scene sample is the likely culprit.
True.
The more bands in common, the more likely the crime scene DNA came from that person.
True or False?
A DNA profile of one mammal is more similar to that of other mammals than to any other vertebrate group.
True.
Mammals share a more recent common ancestor with each other than with other vertebrate groups, so their DNA is more similar.
Why might a child want to know definitively who their father is?
So they can be aware of any inherited illnesses that might affect them in the future.
Give one medical benefit of DNA profiling.
It can identify the presence of certain genes that may be associated with a particular disease.
Define genetic screening.
The use of an individual's DNA profile to determine their risk of developing a particular disease.
At which life stages can genetic screening be carried out?
On an embryo, a fetus, or an adult.
Give three benefits of diagnosing a disease using genetic screening.
Any three of:
Take preventative measures
Begin effective treatment early
Plan for the future
Make informed decisions about pregnancy
Take part in research or clinical trials
Why might someone who is pregnant choose to have genetic testing?
If there is a family history of a genetic disease, so they can find out the risk to the child.
Give one privacy concern surrounding genetic screening.
Genetic data is very sensitive, so its testing and storage must be tightly controlled to prevent misuse. It raises the question of who should have access to it.
How could the results of genetic screening lead to discrimination?
The results could be used against the patient, for example by insurance companies or employers.
What psychological impact can a genetic diagnosis have?
It can trigger emotional stress and anxiety for the patient and their family.
Counselling may be needed but is not always readily available.
Give one ethical issue about sharing genetic information within a family.
Results affect relatives as well as the patient, so difficult decisions arise about who should be tested and who should be told.
Genetic ________ uses a DNA profile to determine the risk of developing a particular disease.
Genetic screening uses a DNA profile to determine the risk of developing a particular disease.
One concern about genetic screening is that results could be used by insurance companies to ________ against a patient.
One concern about genetic screening is that results could be used by insurance companies to discriminate against a patient.
True or False?
Genetic screening results only affect the individual tested.
False.
Because genes are inherited, results also carry information about relatives, which raises difficult decisions about sharing them.
True or False?
A person given a genetic diagnosis may be able to begin treatment earlier.
True.
Early diagnosis allows preventative measures and effective treatment to begin sooner.
Why is education important for someone considering genetic screening?
So they fully understand the ethical implications for themselves and their family before deciding whether to be tested.
Define gene.
A section of a DNA molecule that determines an inherited characteristic.
Define allele.
A different version of the same gene. Alleles are inherited in pairs, one from each parent.
Define gamete.
A sex cell, e.g. an egg or sperm cell in animals, or pollen and an ovule in plants.
Define dominant allele.
An allele that is always expressed, even if only one copy is present.
Define recessive allele.
An allele that is only expressed if two copies are present, with no dominant allele.
Define homozygous.
A genotype with two of the same alleles for a particular gene.
Define heterozygous.
A genotype with two different alleles for a particular gene.
Define genotype.
The combination of alleles that control a particular characteristic.
Define phenotype.
The observable characteristics of an organism, resulting from its genotype and environmental influences.
Define selfing.
Self-fertilisation, when the male and female gametes of the same organism fuse to make a zygote, e.g. in plants.
What are the F₁ and F₂ generations?
F₁: the first generation of offspring from a cross between two parents
F₂: the offspring produced when two individuals from the F₁ generation are crossed
How are dominant and recessive alleles written in genetic diagrams?
The dominant allele is given a capital letter and the recessive allele the same letter in lower case, e.g. T and t.
Why can two alleles of the same gene 'say' different things?
One allele is inherited from the mother and one from the father, so they do not have to be identical.
A genotype with two identical alleles for a gene is described as ________.
A genotype with two identical alleles for a gene is described as homozygous.
The observable characteristics of an organism make up its ________.
The observable characteristics of an organism make up its phenotype.
True or False?
You can always tell an organism's genotype by looking at its phenotype.
False.
A dominant phenotype is shown by both the homozygous dominant and heterozygous genotypes, so they cannot be told apart by appearance.
True or False?
A heterozygous individual is described as pure breeding.
False.
Only homozygous individuals are pure breeding. A heterozygous individual can pass on different alleles.
Define monohybrid inheritance.
The inheritance of a characteristic controlled by a single gene.
Define Punnett square.
A genetic diagram showing the possible combinations of alleles in the offspring of a cross.
Describe how to construct a Punnett square.
Determine the parental genotypes.
Split the alleles of each parent and write them around the outside of the grid.
Fill in the four middle squares to give the possible offspring genotypes.
A pure-breeding tall pea plant (TT) is crossed with a pure-breeding short one (tt). What are the offspring?
All offspring are Tt, heterozygous.
There is a 100% chance that all offspring will be tall.
Two heterozygous tall pea plants (Tt × Tt) are crossed. State the ratio of offspring.
3 : 1 tall to short.
Each offspring has a 75% chance of being tall and a 25% chance of being short.
A heterozygous tall plant (Tt) is crossed with a short plant (tt). State the ratio of offspring.
1 : 1 tall to short.
There is a 50% chance of tall and a 50% chance of short.
What does the term 'pure breeding' tell you about an individual's genotype?
That it is homozygous for that characteristic, i.e. it has two identical alleles.
A plant shows the recessive phenotype. What must its genotype be?
Homozygous recessive, e.g. tt.
A recessive characteristic only shows when there is no dominant allele present.
Why should you choose letters like A and a rather than C and c for a Punnett square?
The capital and lower case forms must look clearly different, so the examiner is in no doubt which allele is dominant and which is recessive.
A cross between two heterozygous individuals gives a phenotype ratio of ________.
A cross between two heterozygous individuals gives a phenotype ratio of 3 : 1.
A genetic diagram used to predict the outcome of a monohybrid cross is called a ________ square.
A genetic diagram used to predict the outcome of a monohybrid cross is called a Punnett square.
True or False?
Crossing a homozygous dominant with a homozygous recessive gives all heterozygous offspring.
True.
Every offspring receives one dominant allele from one parent and one recessive allele from the other.
True or False?
A 3:1 ratio means exactly three out of every four offspring will show the dominant trait.
False.
A ratio gives the probability of each outcome, not a guaranteed result in any small group of offspring.
In which order should the two alleles of a genotype be written?
The dominant allele first, followed by the recessive allele, e.g. Tt not tT.
Define polygenic inheritance.
The inheritance of a characteristic that is controlled by more than one gene.
Are most phenotypic features controlled by one gene or several?
Several. Most characteristics are the result of multiple genes interacting, not single gene inheritance.
Give an example of a polygenic characteristic.
Eye colour. Although brown is dominant to blue, several genes are involved.
Why does eye colour show more than just brown and blue?
It is controlled by several genes, which produce a wide range of phenotypes such as green and hazel.
Why is polygenic inheritance difficult to show in a genetic diagram?
There is a wide range of possible allele combinations across several genes, which a simple Punnett square cannot represent.
What does the prefix 'poly' mean in polygenic?
Many, or more than one, referring to the number of genes involved.
A characteristic controlled by more than one gene is described as ________.
A characteristic controlled by more than one gene is described as polygenic.
________ colour is a common example of a polygenic characteristic.
Eye colour is a common example of a polygenic characteristic.
True or False?
Most human characteristics are controlled by a single gene.
False.
Most characteristics are polygenic, controlled by several genes working together.
True or False?
Polygenic characteristics show a wide range of phenotypes.
True.
Because several genes interact, there are many possible combinations and therefore many possible phenotypes.
Compare single gene and polygenic inheritance.
Single gene: one gene controls the characteristic, giving few clear-cut phenotypes
Polygenic: several genes interact, giving a wide range of phenotypes
Suggest why saying 'brown eyes are dominant to blue eyes' is an oversimplification.
Eye colour is polygenic, so several genes contribute.
This is why intermediate colours such as green and hazel exist, which a simple dominant/recessive model cannot explain.
Which pair of chromosomes determines sex in humans?
The sex chromosomes, which are either XX or XY.
State the sex chromosomes of a human female and a human male.
Female: XX
Male: XY
How is sex determination different from most other characteristics?
Sex is determined by an entire chromosome pair, whereas most other characteristics are determined by one or a few genes.
Which parent determines the sex of the child, and why?
The father.
Only he can pass on a Y chromosome, since the mother has only X chromosomes to give.
What happens to the sex chromosomes when gametes are formed and at fertilisation?
The pair separates, so each gamete receives one chromosome.
They then combine randomly at fertilisation.
What proportion of a man's sperm carry an X chromosome?
About half. The other half carry a Y chromosome.
What is the probability that a child will be male, and why?
50%, or 1 in 2.
Half the father's sperm carry an X chromosome and half carry a Y, and fertilisation is random.
How is a Punnett square used to show the inheritance of sex?
The X and Y chromosomes are written in place of the usual alleles.
The mother contributes X and X, the father X and Y, giving two XX and two XY boxes.
A human female has the sex chromosomes ________.
A human female has the sex chromosomes XX.
If a sperm carrying a ________ chromosome fertilises the egg, the fetus will be male.
If a sperm carrying a Y chromosome fertilises the egg, the fetus will be male.
True or False?
The mother determines the sex of the child.
False.
The father determines it, because only he can pass on a Y chromosome. All the mother's eggs carry an X.
True or False?
Sex chromosomes combine randomly at fertilisation.
True.
Which sperm fertilises the egg is a matter of chance, giving a roughly 50:50 ratio of males to females.
A couple have three daughters. What is the chance their next child is a boy?
50%.
Each fertilisation is independent, so previous children have no effect on the outcome.
Why can an egg cell never carry a Y chromosome?
The mother's sex chromosomes are XX, so every egg she produces must carry an X.
Define genetic modification.
A form of artificial gene transfer in which the genetic material of one organism is introduced into another.
Define transgenic organism.
An organism that has received genetic material from another organism. It is described as genetically modified.
What is recombinant DNA?
The DNA of an organism that now contains DNA from another organism.
How have crop plants been genetically modified to resist insect pests?
They have been given a gene from a bacterium that produces a poison which kills insects, making the crop resistant to pests such as caterpillars.
Why are some crops genetically modified to be herbicide resistant?
So that when the herbicide is sprayed it kills only the weeds and leaves the crop plant unaffected.
What is golden rice and why was it developed?
Rice genetically modified with genes from another plant and a bacterium so the grains make a chemical the body turns into vitamin A.
It could help prevent vitamin A deficiency in parts of the world.
Give two advantages of genetically modified crops.
Reduced use of pesticides and herbicides, which is better for the environment and cheaper for farmers
Increased yields, as crops are not damaged by pests or competing with weeds
Give two disadvantages of genetically modified crops.
Increased seed costs, which smaller and poorer farmers may not be able to afford
Risk of inserted genes being transferred to wild plants by pollination
Why is gene transfer to wild plants a particular problem?
If weeds gain the herbicide-resistance gene, the herbicide will no longer kill them and the GM crop loses its usefulness.
How can GM crops reduce biodiversity?
Heavy herbicide use leaves fewer plant species in the fields, which in turn affects insects and the birds that feed on them.
Why are genetically modified bacteria especially useful?
They have a rapid reproduction rate, so they can produce large quantities of a product in a short time.
There are also few ethical concerns about growing modified bacteria.
An organism that has received genetic material from another organism is described as ________.
An organism that has received genetic material from another organism is described as transgenic.
Golden rice has been modified so its grains produce a chemical the body converts into vitamin ________.
Golden rice has been modified so its grains produce a chemical the body converts into vitamin A.
True or False?
Only plants can be genetically modified.
False.
Many types of organism can be modified, including animals, microorganisms, insects and fish.
True or False?
GM crops always grow better than non-GM crops.
False.
Some research has shown that plants with inserted genes do not grow as well as non-GM plants.
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