Chapter 17

Inheritance

Variation
Types of Variation
Variation is defined as differences between individuals of the same species
Phenotypic variation is the difference in features between individuals of the
same species
Phenotypic variation can be caused in two main ways:
• It can be genetic - controlled entirely by genes
 • Or it can be environmental - caused entirely by the environment in which
the organism lives
Examples of genetic variation in humans include:
• Blood group
• Eye colour
• Ability to roll tongue
• Whether ear lobes are free or fixed
Earlobe variation diagram

Characteristics of all species can be affected by environmental factors such as

climate, diet, accidents, culture and lifestyle
In this instance ‘environmental’ simply means ‘outside of the organism’ and so
can include factors like climate, diet, culture, lifestyle and accidents during
lifetime
Examples include:
• An accident may lead to scarring on the body
• Eating too much and not leading an active lifestyle will cause weight gain
• Being raised in a certain country will cause you to speak a certain language
with a certain accent
• A plant in the shade of a big tree will grow taller to reach more light
Phenotypic variation can be divided into two types depending on how you are
able to group the measurements:
• Continuous variation
• Discontinuous variation
Continuous Variation
Continuous variation is when there are very many small degrees of difference for
a particular characteristic between individuals and they are arranged in order and
can usually be measured on a scale
Examples include height, mass, finger length etc. where there can be many
intermediate groups
Continuous features often vary because of a combination of genetic and
environmental causes, for example:
• Tall parents will pass genes to their children for height
• Their children have the genetic potential to also be tall
• However, if their diet is poor then they will not grow very well
• Therefore, their environment also has an impact on their height
When graphs of this data is plotted, continuous variation gives smooth bell curves
(a result of all the small degrees of difference)
Continuous variation bell-shaped curve

Discontinuous Variation
• Discontinuous variation is when there are distinct differences for a
characteristic
• For example, people are either blood group A, B, AB or O; are either male
or female; can either roll their tongue or not - there are no intermediary
values
• Seed shape and seed colour in peas are also examples of discontinuous
variation
• Discontinuous variation is usually caused by genetic variation alone
 • When graphs of these data are plotted it is presented on a bar chart
Bar chart of discontinuous variation

Investigating variation
There are various ways in which we can investigate examples of continuous and
discontinuous variation
The example below shows an example of an investigation into discontinuous
variation
Polymorphism in snails
• Two species of snail from the same genus, Capaea, are found commonly in
woodlands and grassland habitats in the UK
• The different variations in shell pattern across the two snail species show
polymorphic variation (poly = many, morphism = form)
• There are four shell patterns:
Snail shell pattern variation diagram
Investigating polymorphic variation in snails
We can investigate the frequency of the different patterns in the populations of
snails in woodland and grassland areas to show the effect of habitat on variation
The method is as follows:
• A representative sample of 50 snails from each habitat are photographed
• Quadrat sampling could be used to select snails in a random sample in each
habitat
• Taking a photograph of the snails in their habitat means that no snails
would need to be removed
• This is an ethical consideration
For each habitat, the snails are categorised into one of the four different
variants:
• Pink/brown plain
• Yellow plain
• Pink/brown striped
• Yellow striped
Results can be recorded in a table and presented in a bar chart for each habitat
Results
An efficient way to record the frequency of snails within each category is to use
a tally chart:
Example of a tally chart for recording results
Example of a bar chart to represent tallied results

Results analysis and conclusions

Results analysis is about looking at the data to identify the key trends
In the table above, we can see that...
• all snails were recorded in both habitats
• more pink/brown striped and pink/brown plain snails recorded in
woodland compared to grassland
• more yellow plain and yellow striped snails recorded in grassland
compared to woodland
• more than double the number of yellow plain snails recorded in grassland
compared to woodland
• more than double the number of pink/brown striped snails recorded in
woodland compared to grassland
Conclusions are then made to try and explain the patterns seen in the results
Questions that might be relevant when writing conclusions for the results above
might include:
• Can the four categories of snail patterns be considered common in both
habitats?
• Are there more snails with a certain shell pattern found in one habitat
because they are more adapted to that habitat?
• Do the results suggest that the habitat has an impact on the variation of
snails?
Evaluating your methods
In an evaluation, you should consider the strengths and limitations of your
investigation
The sampling techniques used to collect the results will determine how
representative the sample is and therefore how valid the results are
• How was the area in the habitat selected?
• Were the snails collected randomly?
• Was the sample size big enough?
• How were snails located within the habitat?
• Were some snails less obvious than others due to camouflage? Did these
snails get missed in the sampling techniques?
• Did methods take into account the ethical considerations?
Snails are live animals so methods should be designed to prevent any harm
DNA Structure
• DNA, or deoxyribonucleic acid, is the molecule that contains the
instructions for growth and development of all organisms
• It consists of two strands of DNA wound around each other in what is
called a double helix
Structure of DNA in the cell diagram

• The individual units of DNA are called nucleotides

• All nucleotides contain the same phosphate and deoxyribose sugar, but
differ from each other in the base attached
• There are four different bases, adenine* (A), cytosine* (C), thymine* (T)
and guanine* (G)
• The bases on each strand pair up with each other and form bonds between
the bases, holding the two strands of DNA in the double helix
 • The bases always pair up in the same way:
❖ A always pairs with T
❖ C always pairs with G
Nucleotide structure diagram

DNA base pairing diagram

• The phosphate and sugar section of the nucleotides form the ‘backbone’ of
the DNA strand (like the sides of a ladder) and the base pairs of each strand
connect to form the rungs of the ladder
Structure of the DNA helix diagram
• It is this sequence of bases that holds the code for the formation of proteins
Genes & Protein Production
• A gene is a short length of DNA found on a chromosome
• Each gene codes for a particular sequence of amino acids that make up a
protein
• These proteins determine the characteristics of the person and the
activities of the cells
• There are many different types of proteins but some example of these
could be:
❖ Structural proteins such as collagen found in skin cells
❖ Enzymes
❖ Hormones
• The sequence of bases in a gene determines the sequence of amino acids
that make a specific protein
• Different sequences of amino acids give different shapes and functions to
protein molecules
From gene to protein diagram
Inheritance
Inheritance is the transmission of genetic information from generation to
generation
Alleles are variations of the same gene
As we have two copies of each chromosome, we have two copies of each gene
and therefore two alleles for each gene
• One of the alleles is inherited from the mother and the other from the father
• These two alleles could be the same or different, for example, an individual
has two copies of the gene for eye colour but one allele could code for
brown eyes and one allele could code for blue eyes
The observable characteristics of an organism (seen just by looking - like eye
colour, or found – like blood type) is called the phenotype
The combination of alleles that control each characteristic is called the genotype
Alleles can be dominant or recessive
• A dominant allele only needs to be inherited from one parent in order for
the characteristic to show up in the phenotype
• A recessive allele needs to be inherited from both parents in order for the
characteristic to show up in the phenotype.
• If there is only one recessive allele, it will remain hidden and the dominant
characteristic will show
If the two alleles of a gene are the same, we describe the individual as being
homozygous (homo = same)
• An individual could be homozygous dominant (having two copies of the
dominant allele), or homozygous recessive (having two copies of the
recessive allele)
If the two alleles of a gene are different, we describe the individual as being
heterozygous (hetero = different)
We cannot always tell the genotype of an individual for a particular characteristic
just by looking at the phenotype – a phenotype associated with a dominant allele
will be seen in both a dominant homozygous and a dominant heterozygous
genotype
If two individuals who are both identically homozygous for a particular
characteristic are bred together, they will produce offspring with exactly the same
genotype and phenotype as the parents - we describe them as being ‘pure
breeding’ as they will always produce offspring with the same characteristics
Types of genotypes diagram

Inheritance key terms summary table

Monohybrid Inheritance
Genetic Diagrams
• Monohybrid inheritance is the inheritance of characteristics controlled by
a single gene (mono = one)
• This can be determined using a genetic diagram known as a Punnett
square
• A Punnett square diagram shows the possible combinations of alleles that
could be produced in the offspring
• From this, the ratio of these combinations can be worked out
• The dominant allele is shown using a capital letter and the recessive allele
is shown using the same letter but lower case
Example:
• The height of pea plants is controlled by a single gene that has two
alleles: tall and short
• The tall allele is dominant and is shown as T
• The small allele is recessive and is shown as t
‘Show the possible allele combinations of the offspring produced when a
pure breeding short plant is bred with a pure breeding tall plant’
The term ‘pure breeding’ indicates that the individual is homozygous for that
characteristic
Two pure breeding pea plants genetic cross diagram

• This shows that there is a 100% chance that all the offspring will be tall
‘Show the possible allele combinations of the offspring produced when two
of the offspring from the first cross are bred together’
Heterozygous pea plants genetic cross diagram

• All of the offspring of the first cross have the same genotype, Tt
(heterozygous), so the possible combinations of offspring bred from these
are:
• There is more variation in this cross, with a 3:1 ratio of tall : short, meaning
each offspring has a 75% chance of being tall and a 25% chance of being
short
• The F2 generation is produced when the offspring of the F1 generation
(pure-breeding parents) are allowed to interbreed
‘Show the results of crossing a heterozygous plant with a short plant’
• The heterozygous plant will be tall with the genotype Tt
• The short plant is showing the recessive phenotype and so must be
homozygous recessive – tt
• The results of this cross are as follows:
Punnett square between heterozygous and homozygous recessive plants

• In this cross, there is a 1:1 ratio of tall to short, meaning a 50% chance of
the offspring being tall and a 50% chance of the offspring being short
• The predicted genotypes that Punnett squares produce are all based on
chance
• There is no way to predict which gametes will fuse so sometimes the
observed or real-life results can differ from the predictions, especially
when there are small numbers of offspring
How to construct Punnett squares
• Determine the parental genotypes
• Select a letter that has a clearly different lower case, for example: Aa, Bb,
Dd (not Cc, Oo, Ss)
• Split the alleles for each parent and add them to the Punnett square around
the outside
• Fill in the middle four squares of the Punnett square to work out the
possible genetic combinations in the offspring
• You may be asked to comment on the ratio of different allele combinations
in the offspring, calculate a percentage chance of offspring showing a
specific characteristic or just determine the phenotypes of the offspring
 • Completing a Punnett square allows you to predict the probability of
different outcomes from monohybrid crosses
Codominance & Sex-Linked Characteristics
Codominance
• Inheritance of blood group is an example of codominance
• There are three alleles of the gene governing this instead of the usual two
• Alleles IA and IB are codominant, but both are dominant to IO
• I represents the gene and the superscript A, B and O represent the alleles
• IA results in the production of antigen A in the blood
• IB results in the production of antigen B in the blood
• IO results in no antigens being produced in the blood
• These three possible alleles can give us the following genotypes and
phenotypes:
Blood types phenotypes and genotypes table

• We can use genetic diagrams to predict the outcome of crosses that

involve codominant alleles:
‘Show how a parent with blood group A and a parent with blood group B
can produce offspring with blood group O’
Blood group inheritance Punnett square
 • The parent with blood group A has the genotype IA IO
• The parent with the blood group B has the genotype IB IO
• We know these are their genotypes (as opposed to both being homozygous)
as they are able to produce a child with blood group O and so the child
must have inherited an allele for group O from each parent
• Parents with these blood types have a 25% chance of producing a child
with blood type O
Sex determination
• Sex is determined by an entire chromosome pair (as opposed to most other
characteristics that are just determined by one or a number of genes)
• Females have the sex chromosomes XX
• Males have the sex chromosomes XY
• As only a father can pass on a Y chromosome, he is responsible for
determining the sex of the child
He does this because:
• He produces (ejaculates) around 250 million sperm cells during sexual
intercourse
• Of those, half (125 million sperm) will be carrying his X chromosome
• If one of these sperm fertilises the egg, the fetus will be female
• The other 125 million of his sperm will be carrying his Y chromosome
• Which will result in a male fetus if one of these fertilises the egg
Sex chromosomes in the male and female gametes diagram
Sex determination Punnett square

Mutation
The term mutation can be defined as follows:
A random change in the DNA base sequence
• Most mutations have no effect on the phenotype of an organism, as the
protein for which a gene codes may work just as well as the protein from
the non-mutated gene
• Mutations can lead to harmful changes that can have dramatic effects on
the body, for example sickle cell anaemia in humans
Mutation example: sickle cell anaemia
• The mutation that causes sickle cell anaemia occurs in the gene that codes
for haemoglobin, and so affects the structure of the haemoglobin protein
• Individuals with this mutation have red blood cells that are stiff and sickle-
shaped
• The sickled cells tend to get stuck in narrow blood vessels, blocking the
flow of blood
• As a result, those with sickle cell disease suffer painful “crises” in their
joints and bones when blood flow to these regions is insufficient
• They may suffer strokes, blindness, or damage to the lungs, kidneys, or
heart.
• They must often be hospitalised for blood transfusions
Sickle cell anaemia diagram

Sickled red blood cells are unable to bend, so can get stuck in the blood
vessels, blocking blood flow to important organs
Chromosome mutations
• Chromosome mutations occur when there is a change in the number or
structure of chromosomes
• E.g. Down's syndrome is a genetic condition in which individuals have 47
chromosomes rather than 46; this occurs when the chromosomes do not
fully separate during meiosis
• Down's syndrome is sometimes referred to as Trisomy 21

Individuals with Down's syndrome have an extra copy of chromosome 21

Mutation as a source of genetic variation
• Mutation contributes to genetic variation in populations, as it can give
rise to new alleles which may be passed on to offspring
Other sources of genetic variation are:
Meiosis
• The cell division that gives rise to gametes produces daughter cells which
contain new combinations of alleles
Random mating
• The selection of a mate within a population may occur at random, and
will result in offspring with a new combination of alleles
Random fertilisation
• Only one male cell will fuse with a female cell during fertilisation,
determining the combination of alleles in the fertilised egg cell
Factors that affect mutation rate
• Mutations happen spontaneously, meaning that they do not need a specific
trigger event, but their frequency can be increased by exposure to:
• Ionising radiation, e.g. gamma rays, x-rays and ultraviolet rays
• Some chemicals, e.g. chemicals such as tar in tobacco
• Increased rates of mutation can increase the probability that cells may
become cancerous, which is why the factors above are linked to increased
incidence of cancer
Natural Selection
The process of natural selection results in populations that are well adapted to
survive in their environments as follows:
1. Genetic variation exists between individuals in a population. This occurs due
to events such as mutation and meiosis
2. When organisms reproduce, they produce more offspring than the environment
is able to support
3. Because not every individual can survive, there is competition for food and
other resources
4. Individuals with characteristics that are advantageous in their environment
have a higher chance of survival and so are more likely to reproduce
5. The alleles that code for advantageous characteristics are passed on to
offspring
6. The allele that codes for the advantageous characteristics becomes more
common in each subsequent generation, and the inherited features of the
population evolve, or change, over time
This theory of natural selection was first put forward by Charles Darwin and is
also known as ‘survival of the fittest’.
Examples of natural selection
Snail shell colour may evolve by natural selection as follows:
1. Within the population of snails there is variation in shell colour
• Snail shell colour may be black, grey, or white
• The white phenotype in this example is a new allele that has arisen due to
random mutation
2. More snails are present in the environment than are able to survive
3. There is competition and struggle for survival
4. Snails with advantageous features are more likely to survive and reproduce;
here the white shell phenotype appears to be advantageous, so the white shelled
individuals survive and reproduce
• E.g. the snails may live in an environment where the surrounding ground
is pale in colour, e.g. in a garden with white paving slabs, so they are
camouflaged and are less likely to be eaten by predators
5. The allele for white shells is passed on to offspring more frequently than the
alleles for black or grey shells
6. The allele for white shells becomes more common in the next generation, and
this continues to occur over many generations until the majority of snails in the
population have white shells
Natural selection example diagram
The evolution of body colour in moths is another commonly given example of
natural selection
Natural selection peppered moth diagram

Antibiotic-Resistant Bacteria & Selection

• While natural selection in most species occurs over many years, in species
with short generation times it can take place very quickly
 • The development of antibiotic resistance in bacteria is an example of
natural selection that occurs over easily observable time frames
❖ E.g. methicillin-resistant staphylococcus aureus, or MRSA, are resistant
to the antibiotic methicillin
The development of antibiotic resistance can be explained as follows:
1. Variation exists in a bacterial population; some have an allele that provides
resistance to an antibiotic while others do not
This allele will have arisen due to random mutation
2. Bacteria reproduce, resulting in many individuals, not all of which will
survive
3. The bacteria compete for survival
4. The bacteria with alleles for antibiotic resistance are more likely to survive
when exposed to the antibiotic, and these surviving individuals are more likely
to reproduce
5. The reproducing bacteria pass on the allele for antibiotic resistance to their
offspring
6. Over many generations, the number of antibiotic-resistant bacteria in the
population increases
This may only take a few hours if the bacteria are reproducing quickly
Antibiotic resistance diagram
Artificial Selection
• Artificial selection, also known as selective breeding, has been carried out
by humans for thousands of years; this process uses the principles of
natural selection to develop animal and plant varieties with desirable
characteristics
❖ In natural selection, advantageous features are effectively 'selected' by the
environment due to their impact on survival rates, while in artificial
selection, humans select features that are desirable
The process of selective breeding involves:
• Selecting individuals with desired characteristics
• Cross breeding the selected individuals together
• Selecting offspring that show the desired characteristics
• Breeding the selected offspring together
• Repetition of this process over many generations until all offspring show
the desired characteristics
Selective breeding has resulted in many of the economically important varieties
of plants and animals that we see every day, e.g.
• Dog breeders select which dogs that have desirable personalities and
physical features; this has given rise to the many recognisable dog breeds
of today
Plant breeders can choose which plant individuals to breed from, producing
valuable crop varieties and garden plants
Selective breeding in animals and plants diagram
Many familiar varieties of animals and plants have been developed by
selective breeding