Exam code: 4SD0
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Define genome.
The entire DNA of an organism.

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Define gene.
A section of a molecule of DNA that codes for a specific protein.
Why do all the cells in your body contain the same genome?
They all came from the same fertilised egg cell, which divided by mitosis to give cells with identical sets of chromosomes.
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Define genome.
The entire DNA of an organism.
Define gene.
A section of a molecule of DNA that codes for a specific protein.
Why do all the cells in your body contain the same genome?
They all came from the same fertilised egg cell, which divided by mitosis to give cells with identical sets of chromosomes.
How do genes control our characteristics?
They code for proteins that play important roles in what our cells do.
Give three types of protein coded for by genes.
Enzymes
Hormones
Structural proteins, which build tissues such as skin and muscle
Define chromosome.
A thread-like structure found in the nucleus, made of DNA, on which the genes are located.
How many chromosomes does an ordinary human body cell contain?
46 in total — 23 pairs. This is the diploid number, shown as 2n.
Define diploid.
A cell containing the full number of chromosomes — 46 in human cells, arranged as 23 pairs, one of each pair from each parent.
What is the haploid number of chromosomes in human cells?
23 — the number found in a gamete.
How are DNA, a gene and a chromosome related?
DNA is the molecule that carries the genetic information
A gene is a section of a molecule of DNA
A chromosome is a structure in the nucleus, made of DNA, carrying many genes
The entire DNA of an organism is known as its ________.
The entire DNA of an organism is known as its genome.
Chromosomes are found in the ________ of a cell.
Chromosomes are found in the nucleus of a cell.
True or False?
All species have 23 pairs of chromosomes.
False.
The number differs between species — humans have 23 pairs, dogs have 39 pairs and rice plants have 12 pairs.
True or False?
A gene is a section of a molecule of DNA.
True.
Each gene codes for one specific protein.
Define allele.
An alternative form (version) of the same gene.
Different alleles of a gene give rise to different versions of an inherited characteristic.
How many alleles for each gene does a human have?
Two — because humans have two copies of each chromosome, and so two copies of each gene.
Where does each of a person's two alleles come from?
One is inherited from the mother and one from the father.
Why do alleles cause variation within a species?
Because they are different versions of the same gene, they give rise to differences in inherited characteristics.
Which structures carry the two alleles of a gene?
The two matching chromosomes of a pair — one inherited from each parent.
Give an example of a characteristic controlled by alleles of one gene.
Height in pea plants — one allele gives tall plants and the other gives short plants.
Can two organisms with the same genotype look different?
Yes. The environment also affects a characteristic, so the phenotype is not decided by the alleles alone.
What is the relationship between a gene and an allele?
A gene is a section of DNA coding for a protein. An allele is one of the alternative versions of that gene.
Alternative forms of the same gene are called ________.
Alternative forms of the same gene are called alleles.
Humans have two copies of each chromosome, so they have ________ alleles for every gene.
Humans have two copies of each chromosome, so they have two alleles for every gene.
True or False?
A person can inherit more than two alleles for one gene.
False.
Only two are inherited — one from each parent — even where more than two versions exist in the population.
True or False?
Alleles give rise to variation within a species.
True.
Different alleles produce different inherited characteristics in individuals of the same species.
Define phenotype.
The observable characteristics of an organism.
Define genotype.
The combination of alleles an organism has for a particular gene — for example TT, Tt or tt.
Define dominant allele.
An allele that is expressed in the phenotype even if only one copy is present.
It is written as a capital letter.
Define recessive allele.
An allele that is only expressed in the phenotype if both alleles are recessive.
It is written as a lowercase letter.
Define homozygous.
Having two identical alleles for a gene — either homozygous dominant (e.g. TT) or homozygous recessive (e.g. tt).
Define heterozygous.
Having two different alleles for a gene — for example Tt.
What happens if one dominant and one recessive allele are present?
The recessive allele is masked by the dominant one, so the dominant characteristic is shown in the phenotype.
How are dominant and recessive alleles written?
Dominant — a capital letter
Recessive — the same letter in lowercase
For a gene with alleles T and t, which genotypes show the dominant trait?
TT and Tt.
Only tt shows the recessive characteristic.
What is the difference between genotype and phenotype?
The genotype is the combination of alleles an organism has.
The phenotype is the observable characteristic that results from it.
An organism with two identical alleles for a gene is described as ________.
An organism 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?
A recessive allele must be inherited from both parents to be expressed.
True.
With only one copy it is masked by the dominant allele.
True or False?
A heterozygous organism has two identical alleles.
False.
Heterozygous means two different alleles. Two identical alleles is homozygous.
Define polygenic.
Describing a characteristic that is controlled by more than one gene (poly = many).
Define polygenic inheritance.
The inheritance of characteristics that are controlled by several genes interacting, rather than a single gene.
Are most phenotypic features controlled by one gene or many?
Many. Most characteristics result from multiple genes interacting, rather than a single gene.
Why do polygenic characteristics show a wide range of phenotypes?
Because several genes each contribute, so instead of just two options there is a continuous range of possible outcomes.
Give three examples of polygenic inheritance in humans.
Height
Skin colour
Weight
Why is height a polygenic characteristic?
It is controlled by several genes, each contributing to how tall a person becomes, giving a continuous range from very short to very tall.
Why is polygenic inheritance hard to show in a genetic diagram?
Because there are many possible combinations of alleles across the several 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.
Human ________ is a polygenic characteristic, giving a continuous range from very short to very tall.
Human height is a polygenic characteristic, giving a continuous range from very short to very tall.
True or False?
Most human characteristics are controlled by a single gene.
False.
Most phenotypic features are the result of polygenic inheritance — several genes interacting.
True or False?
Polygenic characteristics usually have only two possible phenotypes.
False.
They typically show a much wider range of phenotypes, rather than just two options.
What does the prefix 'poly' mean in polygenic?
Many — many genes contribute to the characteristic.
Define monohybrid inheritance.
The inheritance of characteristics controlled by a single gene.
Define Punnett square.
A genetic diagram showing the possible combinations of alleles that could be produced in the offspring of a cross.
How do you construct a Punnett square?
Determine the parental genotypes.
Split the alleles for each parent and write them around the outside.
Fill in the middle four squares to give the possible genetic combinations in the offspring.
What are the gametes of a heterozygous (Tt) pea plant?
Half carry the T allele and half carry the t allele, because meiosis separates the pair.
What is the outcome of crossing a pure-breeding tall pea plant with a short one?
All the offspring are Tt (heterozygous), so all show the tall phenotype.
What ratio results from crossing two heterozygous pea plants?
3 tall : 1 short.
The possible genotypes are TT (tall), Tt (tall) and tt (short).
What are the probabilities of each phenotype from a Tt × Tt cross?
75% chance of being tall
25% chance of being short
What genotype must a short pea plant have, and why?
tt — homozygous recessive.
Short is the recessive phenotype, so it only shows when no dominant allele is present.
What ratio results from crossing a heterozygous tall plant with a short one?
1 tall : 1 short — half the offspring are Tt (tall) and half are tt (short).
What does a 1:1 ratio in the offspring tell you about the parents?
One parent was heterozygous (Tt) and the other homozygous recessive (tt).
Crossing two heterozygous pea plants gives a ratio of ________ tall to short offspring.
Crossing two heterozygous pea plants gives a ratio of 3:1 tall to short offspring.
In pea plants the tall allele T is ________ and the short allele t is recessive.
In pea plants the tall allele T is dominant and the short allele t is recessive.
True or False?
A Punnett square can be used to predict probabilities of outcomes.
True.
The ratio of allele combinations lets you calculate the percentage chance of each phenotype.
Define family pedigree diagram.
A diagram used to trace the pattern of inheritance of a specific characteristic, usually a disease, through generations of a family.
What can a family pedigree be used to work out?
The probability that someone in the family will inherit the genetic disorder.
How are males and females shown on a pedigree diagram?
Males — squares
Females — circles
How are affected and unaffected individuals shown?
By shading or colour — affected individuals are shaded one colour and unaffected another.
What does a horizontal line between two individuals mean?
That they have produced children, which are shown underneath the couple.
Where are the children of a couple drawn on a pedigree?
Underneath the couple, connected to the horizontal line joining the parents.
What does it suggest if both males and females are affected?
That the condition is not restricted to one sex — it affects both males and females.
What can you conclude if every generation has affected individuals?
That the characteristic is passed on continuously through the generations, appearing in each one.
On a family pedigree, males are shown as squares and females as ________.
On a family pedigree, males are shown as squares and females as circles.
A ________ line between a male and a female shows that they have produced children.
A horizontal line between a male and a female shows that they have produced children.
True or False?
Circles on a family pedigree represent females.
True.
Squares represent males and circles represent females.
True or False?
A pedigree can show unaffected parents with affected children.
True.
This happens when both parents are carriers of a recessive allele without showing the condition themselves.
Which sex chromosomes do females and males have?
Females — XX
Males — XY
How is sex determined differently from most other characteristics?
Sex is determined by an entire chromosome pair, whereas most other characteristics are determined by one or a number of genes.
Which parent determines the sex of a child, and why?
The father.
The mother can only pass on an X, but the father can pass on either an X or a Y.
Which combinations of sex chromosomes can offspring inherit?
An X from the mother and an X from the father ➔ female
An X from the mother and a Y from the father ➔ male
How is the inheritance of sex shown in a genetic diagram?
Using a Punnett square, with the X and Y chromosomes written in place of the alleles.
What is the probability of a child being male?
50%, since the father is equally likely to pass on an X or a Y chromosome.
Which chromosome can only be passed on by the father?
The Y chromosome.
A female has the sex chromosomes ________.
A female has the sex chromosomes XX.
Because only a father can pass on a ________ chromosome, he determines the sex of the child.
Because only a father can pass on a Y chromosome, he determines the sex of the child.
True or False?
The mother determines the sex of her child.
False.
The mother can only pass on an X chromosome, so it is the father who determines the sex.
True or False?
Sex is determined by a whole pair of chromosomes.
True.
Unlike most characteristics, which depend on individual genes, sex depends on the whole X/Y pair.
Which cell type determines the sex of the offspring at fertilisation?
The sperm cell, because it carries either an X or a Y chromosome.
Define mitosis.
Nuclear division giving rise to genetically identical cells.
Define diploid.
Having two copies of each chromosome. Most body cells are diploid.
Describe the process of mitosis.
Just before mitosis, each chromosome copies itself exactly, forming X-shaped chromosomes.
The chromosomes line up along the centre of the cell, where cell fibres pull them apart.
The cell divides into two, and each new cell has a copy of every chromosome.
Why must the chromosomes double before a cell divides?
So that when the cell splits in two, each new cell still has two copies of every chromosome — it remains diploid.
Name four processes in which mitosis occurs.
Growth
Repair of damaged tissues
Cloning
Asexual reproduction
Why is mitosis important for growth?
It produces new cells — for example when a zygote divides to form an embryo.
Why is mitosis important for repair?
It replaces damaged or dead cells, such as skin cells and red blood cells.
Why does asexual reproduction use mitosis?
Because mitosis produces offspring that are genetically identical to the parent.
Which cells in the body are not produced by mitosis?
The gametes — every other cell in the body is produced by mitosis of the zygote.
Mitosis produces two cells that are genetically ________ to each other.
Mitosis produces two cells that are genetically identical to each other.
Before mitosis each chromosome copies itself exactly, forming ________-shaped chromosomes.
Before mitosis each chromosome copies itself exactly, forming X-shaped chromosomes.
True or False?
Mitosis halves the number of chromosomes in a cell.
False.
Mitosis keeps the cells diploid — each daughter cell still has two copies of every chromosome. It is meiosis that halves the number.
True or False?
Cell fibres pull the chromosomes apart during mitosis.
True.
The chromosomes line up along the centre of the cell, and cell fibres pull them apart before the cell divides.
Define meiosis.
A type of nuclear division that gives rise to cells that are genetically different, each with half the number of chromosomes.
How many cells does meiosis produce, and of what type?
Four haploid daughter cells, which are the gametes.
Why must the chromosome number be halved during meiosis?
Because otherwise the zygote would have double the number of chromosomes when the gametes join at fertilisation.
Describe the process of meiosis.
The chromosomes double themselves and line up in the centre of the cell.
First division — the chromosomes pair up along the centre, then cell fibres pull the pairs apart.
Second division — the chromosomes line up along the centre of these new cells and are pulled apart again.
The result is four haploid gametes.
Give two reasons why meiosis is important.
It produces the gametes — sperm and egg cells, pollen grains and ova
It increases the genetic variation of offspring
How many times does the cell divide in meiosis?
Twice, so that only one copy of each chromosome passes to each gamete.
Give three differences between mitosis and meiosis.
Number of divisions — mitosis divides once, meiosis twice
Number of daughter cells — mitosis makes two, meiosis makes four
Genetic outcome — mitosis makes genetically identical diploid cells, meiosis makes genetically different haploid cells
Which type of cell division produces gametes?
Meiosis. Mitosis produces all the other body cells.
Meiosis produces ________ haploid daughter cells.
Meiosis produces four haploid daughter cells.
Cells with half the normal number of chromosomes are described as ________.
Cells with half the normal number of chromosomes are described as haploid.
True or False?
Meiosis produces genetically identical cells.
False.
Meiosis produces cells that are genetically different. It is mitosis that produces identical cells.
True or False?
The chromosomes double themselves before meiosis begins.
True.
Just as in mitosis, the chromosomes copy themselves and line up in the centre of the cell before the divisions begin.
What variation does meiosis create?
Genetic variation between the gametes produced by an individual, so each gamete carries substantially different alleles.
What is random fertilisation?
The fact that any male gamete can fuse with any female gamete to form a zygote.
How does random fertilisation create genetic variation?
The random fusion of gametes means each zygote receives a unique combination of alleles.
Give four examples of genetic variation in humans.
Blood group
Eye colour
The ability to roll the tongue
Whether ear lobes are free or fixed
Which two stages together produce genetic variation in offspring?
Meiosis, which varies the alleles between gametes
Random fertilisation, which varies which two gametes combine
Why is every zygote genetically unique?
Because it results from the random fusion of two gametes, each already carrying a different combination of alleles.
Give an example of an inherited human feature that is either/or.
Ear lobes — they are either free (lobed) or attached (lobeless).
During fertilisation, any male gamete can fuse with any female gamete to form a ________.
During fertilisation, any male gamete can fuse with any female gamete to form a zygote.
________ creates genetic variation between the gametes an individual produces.
Meiosis creates genetic variation between the gametes an individual produces.
True or False?
All the gametes produced by one person are genetically identical.
False.
Meiosis makes each gamete carry a substantially different set of alleles.
True or False?
Blood group is an example of genetic variation.
True.
So are eye colour, tongue-rolling ability, and whether ear lobes are free or fixed.
What does a zygote go on to become?
It grows and develops into an adult organism.
Define diploid cell.
A cell containing two complete sets of chromosomes (2n).
Nearly all human body cells are diploid, with 23 pairs — 46 chromosomes.
Define haploid cell.
A cell containing one complete set of chromosomes (n) — half the number in a diploid cell.
In humans that is 23 chromosomes, with no pairs.
What is the diploid number of chromosomes in human cells?
46 — 23 pairs.
What is the haploid number of chromosomes in human cells?
23, with no pairs.
Which human cells are haploid?
The gametes — the female egg and the male sperm.
Why are the gametes haploid?
Because they are involved in sexual reproduction — when two haploid gametes fuse, the zygote has the correct diploid number.
How are diploid and haploid written in shorthand?
Diploid — 2n
Haploid — n
What do the chromosomes in a cell contain?
DNA, organised into genes that code for the proteins the cell needs.
In human cells the diploid number of chromosomes is ________.
In human cells the diploid number of chromosomes is 46.
In human cells the haploid number of chromosomes is ________.
In human cells the haploid number of chromosomes is 23.
True or False?
A haploid cell has 23 pairs of chromosomes.
False.
A haploid human cell has 23 chromosomes with no pairs. It is a diploid cell that has 23 pairs.
True or False?
Nearly all cells in the human body are diploid.
True.
The only haploid cells are the gametes — the egg and the sperm.
Define variation.
The differences between individuals of the same species.
What are the three possible causes of variation?
Differences in genes, brought about by random fertilisation of gametes
Environmental factors
A combination of both
What does 'environmental' mean in the context of variation?
Anything outside of the organism — including climate, diet, culture, lifestyle and accidents during a lifetime.
Give four examples of environmental variation.
Scarring on the body after an accident
Weight gain from overeating and an inactive lifestyle
The language and accent you speak with
A plant growing taller in the shade of a big tree, to reach more light
What causes discontinuous variation?
Genetic variation alone. It is controlled by a single gene (monogenic), not polygenic.
Give three examples of discontinuous variation.
Blood group
Ability to roll the tongue
Whether ear lobes are free or attached
What causes continuous variation?
A combination of genetic and environmental factors, with the genetic component often being polygenic.
Explain how height shows both genetic and environmental influence.
Tall parents pass on genes for height, so the children have the genetic potential to be tall.
But if their diet is poor they will not grow well — so the environment also affects their height.
Summarise the relationship between genes and the environment.
Genes decide which characteristics we inherit, while the environment affects how those inherited characteristics develop.
________ variation is usually caused by genetic factors alone and is controlled by a single gene.
Discontinuous variation is usually caused by genetic factors alone and is controlled by a single gene.
Variation is defined as the differences between individuals of the same ________.
Variation is defined as the differences between individuals of the same species.
True or False?
All variation is caused by genes.
False.
Variation can be genetic, environmental, or a combination of both.
True or False?
Human height shows continuous variation.
True.
It is polygenic and also affected by the environment, such as diet, giving a continuous range of heights.
Define mutation.
A rare, random change in the genetic material of an organism, which can be inherited.
Can mutations be inherited?
Yes — mutations can be passed on to offspring.
How often do mutations occur?
Continuously, though any individual mutation is a rare, random event.
What are the two causes of variation within a species?
Genetic variation, inherited from the parents
Environmental variation, caused by the surroundings
Most variation is a combination of both.
How can a mutation be passed on to the next generation?
If the mutation occurs in a gamete, it is passed to the zygote at fertilisation and so is inherited by the offspring.
Where in the genetic material can a mutation occur?
In a gene or in a chromosome.
Why are mutations important for natural selection?
They are a source of genetic variation, which is what natural selection acts on.
A mutation is a rare, random change in the ________ material of an organism.
A mutation is a rare, random change in the genetic material of an organism.
A mutation can make a bacterium ________ to an antibiotic, so it survives treatment.
A mutation can make a bacterium resistant to an antibiotic, so it survives treatment.
True or False?
A mutation is always harmful to the organism.
False.
A mutation can also give an advantage — antibiotic resistance in bacteria, for example — and natural selection then makes it more common.
True or False?
Mutations can be passed on to offspring.
True.
Mutations can be inherited.
Are mutations directed towards a useful outcome?
No — they are entirely random.
Who proposed the theory of evolution by natural selection?
Charles Darwin.
What does Darwin's theory state?
That evolutionary change has occurred, and that natural selection is the process that has driven that change.
Describe the four stages of natural selection.
Variation — individuals in a species vary because of differences in their genes, often caused by mutation.
Increased survival — individuals with advantageous characteristics have a higher chance of surviving.
Increased reproduction — survivors are more likely to reproduce and pass on their advantageous alleles.
Increased allele frequency — over many generations the advantageous characteristics become more common in the population.
What is meant by 'survival of the fittest'?
That individuals with characteristics advantageous in their environment have a higher chance of survival.
What causes the variation that natural selection acts on?
Differences in genes, which may be caused by mutations.
Why do advantageous alleles become more common over time?
Because the individuals carrying them are more likely to survive and reproduce, so they pass those alleles on to more offspring.
Give two classic examples of evolution by natural selection.
Snail shell colour
Peppered moth colour
Over what timescale does natural selection change a population?
Over many generations.
Individuals with characteristics that are ________ in their environment have a higher chance of survival.
Individuals with characteristics that are advantageous in their environment have a higher chance of survival.
Over many generations, advantageous alleles become more ________ in the population.
Over many generations, advantageous alleles become more common in the population.
True or False?
Individual organisms evolve during their lifetime.
False.
It is the population that changes, over many generations, as advantageous alleles become more common.
True or False?
All populations contain genetic variation.
True.
This variation, often caused by mutations, is what natural selection acts on.
Describe how antibiotic resistance increases in a bacterial population.
A random mutation gives rise to a new allele coding for antibiotic resistance.
When the population meets the antibiotic, bacteria without the allele die while those with it survive.
The survivors are more likely to reproduce, passing on the resistance allele.
Over generations the frequency of the resistance allele increases, producing a resistant strain.
Which process gives rise to antibiotic-resistant bacteria?
Natural selection.
Where does the resistance allele originally come from?
A random mutation in the bacterial DNA.
How can a resistant bacterial infection be treated?
Only with a different antibiotic — and in some cases several antibiotics are needed.
Why does antibiotic resistance make infections harder to control?
Because the antibiotic that would normally work no longer kills the bacteria, so alternative or multiple antibiotics are needed.
What happens to non-resistant bacteria when an antibiotic is used?
They die, leaving only the bacteria carrying the resistance allele.
Which four steps of natural selection produce a resistant strain?
Variation — a random mutation gives a resistance allele
Increased survival — resistant bacteria survive the antibiotic
Increased reproduction — they pass the allele on
Increased allele frequency — the allele becomes common in the population
Antibiotic resistance first arises from a random ________ in the bacterial DNA.
Antibiotic resistance first arises from a random mutation in the bacterial DNA.
Over several generations the ________ of the resistance allele increases in the population.
Over several generations the frequency of the resistance allele increases in the population.
True or False?
Bacteria develop resistance because they are exposed to antibiotics.
False.
The resistance allele arises by random mutation first. The antibiotic then selects for the bacteria that already carry it.
True or False?
A resistant strain can still be treated with a different antibiotic.
True.
Once resistance to one antibiotic develops, a different antibiotic — or several — must be used.
Why do resistant bacteria come to dominate a population?
Because they are the ones that survive the antibiotic and so are the ones that reproduce, passing the allele to their offspring.
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