CAIE Biology IGCSE
17: Inheritance
Notes
(Content in bold is for Extended students only)
This work by PMT Education is licensed under [Link]
[Link] CC BY-NC-ND 4.0
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Chromosomes, genes and proteins
Key words:
● Chromosome - a thread-like structure of DNA that carries genetic information in the
form of genes.
● Gene - a length of DNA that codes for a particular protein.
● Allele - one of a number of different versions of a gene.
● Diploid nucleus - nuclei which contain a full set of chromosomes (23 pairs).
● Haploid nucleus - nuclei which only contain half the number of chromosomes. These
cells are egg and sperm cells, which fuse during fertilisation to produce a diploid cell.
There are 23 pairs of chromosomes in the nucleus of all diploid human cells. One of these
pairs determines gender. These chromosomes are therefore called the sex chromosomes. For
females these chromosomes are XX and for males the chromosomes are XY. All female egg cells
contain only an X chromosome, whereas male sperm cells may contain an X or a Y, thus the
gender of the baby depends on which sperm cell fertilises the egg cell.
Protein synthesis:
DNA controls the function of the cell by regulating protein synthesis, including enzymes,
membrane carrier proteins and receptors for neurotransmitters. Protein synthesis is
important to maintain cell structure, as well as for producing enzymes to catalyse metabolic
reactions. The sequence of bases in a gene determines the sequence of amino acids used to
make a specific protein.
1. The gene which codes for the protein is used to make an mRNA copy in the nucleus.
mRNA is similar to a single strand of DNA, although it contains base U rather than T.
2. The mRNA copy leaves the nucleus and travels through the cytoplasm to a ribosome.
3. The ribosome uses the mRNA strand to produce a chain of amino acids which make up
the protein. The order of the amino acid chain is determined by the order of bases on
the mRNA. This order is specific to each protein made.
4. Different sequences of amino acids give different shapes of protein molecules.
As each type of cell has a different function, not every type of protein is synthesised in every
cell. The genes to code for each protein are present in every cell. However, these genes are
therefore switched ‘on’ or ‘off’. When the gene is switched on, it is expressed, and the
protein associated with the gene is synthesised. When the protein is not required, the gene is
switched off.
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Mitosis
Mitosis is a form of cell division. During mitosis, nuclear division of a parent cell occurs,
producing two genetically identical daughter cells. Mitosis is used to create new cells in the
body to repair and replace old and damaged tissues, as well as allowing growth of the
organism and playing a role in asexual reproduction. Mitosis involves the splitting of
chromosomes into their two halves, each of which are known as a chromatid:
1. Before replication can occur, the chromatids in the parent cell must replicate to
produce identical copies of themselves which pair as chromosomes.
2. The chromosomes line-up along the nucleus.
3. The copies of chromosomes separate so that each identical chromatid is pulled to
opposite poles of the cell, maintaining the chromosome number in each daughter cell.
4. The cell membrane constricts in the middle and the nucleus is separated as the cell
splits into two new daughter cells. Each of these cells will contain a set of chromatids,
which then replicate themselves again to produce new chromosomes.
Stem cells:
Stem cells are found in embryos or in the bone marrow. These cells are unspecialised and
divide by mitosis to produce daughter cells which can become specialised for specific
functions. Cells, once specialised, cannot produce unspecialised cells. For example, a cell
which makes up the heart tissue cannot divide to make a cell which can act as skin tissue as
the cell produced will already be specialised as a heart cell.
Meiosis
Meiosis is used to make four genetically unique daughter cells and is used in the production
of gametes. During meiosis, the chromosome number is halved, and a diploid cell divides to
produce four haploid cells. As each gamete produced is genetically unique, each of the
offspring will also be unique. This is beneficial for a species as it produces genetic variation.
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Monohybrid Inheritance
Key words:
● Inheritance - the transmission of genetic information from generation to generation.
● Genotype - the genetic makeup of an organism, consisting of all the alleles present.
● Phenotype - the observable features of an organism as a result of the expression of
particular alleles of the gene.
● Homozygous - an organism containing two identical alleles of a particular gene.
● Heterozygous - an organism containing two different alleles of a particular gene.
Offspring inherit characteristics from both their mother and father and two sets of genes are
inherited, one from each. If the mother and father pass down the same allele for a particular
trait, e.g. they both pass down the allele for blue eyes, the offspring will have two identical
alleles for this trait, which is referred to as homozygous. If two separate alleles are passed
down, e.g. the mother has blue eyes and the father has brown eyes, the offspring will have two
different alleles for the gene, which is called heterozygous.
If two identical homozygous individuals are bred together, it is referred to as pure-breeding,
and the offspring will have the same characteristics as the parents. Breeding heterozygous
parents is not pure-breeding, as there are a number of different alleles that the offspring could
display in their phenotype.
Alleles can be dominant and recessive. A dominant allele is always expressed if present,
whereas the recessive allele is only expressed in the absence of the dominant allele. For
example, the allele for brown eyes is dominant and the allele for blue eyes is recessive. This
means that if two parents with blue and brown eyes were bred, the offspring would have brown
eyes as this allele is dominant.
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Pedigrees:
A pedigree diagram is used to see the pattern of inheritance of a trait in different generations
of a family.
● Males are represented by a square shape and females are represented by a circle.
● Affected individuals are filled in and unaffected individuals are unfilled.
● Horizontal lines link males and females which are mates.
● Vertical lines link couples to their offspring
In the pedigree above, every generation has affected individuals. There are four females and
one male affected. The rest of the members are unaffected.
If a trait appears in every generation, it is most likely a dominant trait. The pedigree above
shows a dominant trait.
If a trait skips generations, it tends to be a recessive trait. Individuals can carry a recessive allele
without expressing the trait themselves. These individuals are carriers. They can still pass it on
to their offspring. If the offspring inherit the recessive allele from both parents, the offspring
will be affected. This is represented in pedigrees as unaffected parents having affected
offspring.
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Monohybrid crosses:
Monohybrid crosses are used to predict the ratios of inherited characteristics in a population.
There are always four outcomes. The dominant allele is written as a capital letter and the
recessive as the lowercase of that letter.
E.g. 1) Crossing two heterozygous green and yellow pea plants (both parents contain the alleles
for both traits):
G= green (dominant allele)
g= yellow (recessive allele)
Parent one → G g
Parent two ↓
G GG Gg
g Gg gg
The outcomes are GG, Gg, Gg and gg. As G is dominant, there is a 75% chance that the offspring
will display this allele in the phenotype and be green. There is a 25% chance that the offspring
will be yellow therefore the ratio is 3:1.
E.g. 2) Crossing a homozygous recessive (yellow) pea plant with a heterozygous pea plant:
G= green (dominant allele)
g= yellow (recessive allele)
Parent one (homozygous) → g g
Parent two (heterozygous) ↓
G Gg Gg
g gg gg
The outcomes are Gg, Gg, gg and gg. There is a 50% chance of the offspring being green or
yellow, therefore the ratio is 1:1.
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Test Crosses:
A test cross is a breeding experiment used to determine whether an organism’s genotype is
homozygous dominant or heterozygous dominant.
● The individual with the unknown genotype must breed with an individual with a
homozygous recessive genotype.
● If all offspring produced show the dominant trait, the organism is homozygous
dominant.
● If approximately half the offspring produced show the recessive trait, the organism is
heterozygous dominant.
Co-dominance:
Some alleles are co-dominant, meaning that neither is recessive, and they are both displayed
in the phenotype. An example of this is blood groups. The three possible alleles for blood
groups are A, B and O. The A and B alleles are co-dominant, which leads to the AB blood
group. O is recessive, and thus is only displayed in the phenotype if both parents have O
blood groups.
When writing codominant alleles, a capital letter is used to show the gene, and a superscript
letter is used to denote the allele. For example, an allele for blood group A is written as IA.
Genetic diagrams can be used to predict blood groups of children if the genotypes of the
parents are known.
E.g. When a heterozygous female with blood group A is crossed with a heterozygous male
with blood group B:
Female → IA IO
Male↓
IB IAIB (AB blood group) IBIO (B blood group)
IO IAIO(A blood group) IOIO(O blood group)
Therefore the phenotypic ratio is 1:1:1:1.
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Sex-linked characteristics:
Some genes are located on the sex chromosomes. A characteristic which comes from one of
these genes is referred to as a sex-linked characteristic. A result of this is that some traits are
more common to one gender, for example any gene located on the Y chromosome can only be
present in males as females do not have this chromosome. An example of a sex-linked
characteristic is red-green colour blindness, which is a recessive characteristic found on the X
chromosome.
Genetic diagrams can be used to predict sex-linked characteristics in children if the genotypes
of the parents are known.
E.g. When a male with normal colour vision is crossed with a carrier female:
Male → XR Y
Female↓
XR XRXR(female with normal XRY(male with normal colour
colour vision) vision)
Xr XRXr(female carrier) XrY(colour-blind male)
● There is a 75% chance of producing a child with normal colour vision
● There is a 25% chance of producing a colour-blind child.
Therefore the phenotypic ratio is 3:1.
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CAIE Biology IGCSE
18: Variation and Selection
Notes
(Content in bold is for Extended students only)
This work by PMT Education is licensed under [Link]
[Link] CC BY-NC-ND 4.0
[Link]
[Link] [Link]
Variation
Variation refers to the differences between each organism in a species. Variation is beneficial to
a species as it allows natural selection to occur and reduces the risk of extinction from
diseases. There are two types of variation: genetic variation and phenotypic variation.
● Genetic variation - each organism in a species has a different set of DNA, which is due to
genetic variation. Genetic variation is increased during meiosis, which produces
gametes. Each gamete has a different set of alleles, which means that when the two
gametes fuse an entirely new set of genes are produced. Mutation, meiosis, random
mating and random fertilisation are sources of genetic variation in populations.
● Phenotypic variation - The phenotype of an organism refers to its observable
characteristics, such as height or hair colour. Phenotypical variation can be caused by
both genetic and environmental factors. For example, the potential height of an
organism is decided in genes which come from the parents, although some organisms
will never reach this height as they do not receive enough nutrients from their
environment.
Variation can be continuous and discontinuous. Continuous variation results in a range of
phenotypes between two extremes, for example height or weight. Discontinuous variation,
however, is limited to a discrete number of categories, such as blood group, which is limited to
A, B, AB, or O in humans, seed shape and seed colour in peas. Discontinuous variation is mainly
caused by genes alone while continuous variation is caused by both genes and the
environment.
Mutations:
Mutations are genetic changes which result in a random change in the sequence of DNA
bases. The rate of mutation can increase due to a variety of factors, including exposure to some
chemicals and ionising radiation. If the mutation occurs at a particular allele, this allele may be
altered, changing how it functions. This is how new alleles are formed.
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Adaptive features
Adaptive features are inherited functional features that help the organism by increasing its
fitness, which is the ability of the organism to survive and reproduce in its environment.
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Xerophytes are plants that are adapted to live in very dry climates, such as cacti. They have a
number of adaptive features that help to increase survival by reducing water loss:
● Fewer stomata - water vapour diffuses out of the plant via the stomata, thus less
water is lost if there are fewer stomata. Stomata are also sunken in pits in the leaf,
which allows bubbles of moist air to be trapped around them. This lowers the water
potential gradient, so less water is lost from the leaf.
● Small, rolled leaves or spines - this reduces the surface area of the leaf and traps
moisture to lower the water potential gradient, reducing water loss.
● Deep roots - this allows plants to absorb water from the soil. Roots are also adapted to
absorb lots of water when it rains for storage, e.g. in monsoon seasons.
● Thick waxy cuticle - this provides a waterproof barrier around the leaf to prevent
water loss.
Hydrophytes, in contrast, are plants which are adapted to live in very wet conditions and
include species such as water lilies and lotus. These plants are adapted differently to
xerophytes as they do not need to minimise water loss:
● Leaf shape - leaves are usually large and flat to have a large surface area which
promotes water loss.
● Stomata - positioned on the top of the leaf where the sun hits. There is also a large
number of stomata, which are usually open to allow water vapour to diffuse out of the
leaf.
● Thin/no waxy cuticle - water loss does not need to be restricted by this layer in
hydrophytes.
● Small root system - as there is a large amount of water readily available, root systems
can be shallow, and water can diffuse directly into the stem.
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Selection
Natural selection is where organisms with favourable alleles and advantageous characteristics
have a higher probability of surviving and reproducing. This is due to competition within a
population for resources and mates. Due to variation in the alleles of each species, each
organism within a species has different traits, some positive and some negative. Those with
more positive traits can adapt to the environment more effectively and are thus more likely to
survive and produce many offspring, which inherit these alleles. Over time, negative
characteristics are lost from the species as organisms with those characteristics are not able
reproduce to pass on their alleles. This is known as evolution. Evolution allows a population to
become more adapted to its environment over time, as a result of natural selection.
Antibiotic resistance:
Some bacterial strains become resistant to antibiotics as a result of natural selection:
1. A mutation occurs in a bacterial cell allele which makes it resistant to an antibiotic.
2. When that antibiotic is administered, this cell is not killed, whereas cells which have
not become resistant are killed.
3. The resistant bacterial cell can therefore survive and reproduce, passing on the
resistant allele to produce more resistant bacteria.
Selective breeding:
Selective breeding is where humans select animals or plants with desirable features and breed
these together to make more offspring with these desirable features. This process is repeated
over many generations, where only offspring showing desirable features will be chosen to be
cross-bred together. As this breeding is controlled by humans, it is known as artificial
selection.
An example of selective breeding of animals is the German Shepherd. These dogs were
originally bred as working dogs to herd sheep as they are known for their intelligence and
agility. Humans selectively breed these dogs to exaggerate desirable qualities, such as their
sloping backs and large ears. This involves crossing dogs which show these traits so that the
alleles are passed on to their offspring. Farmers also selectively breed crops. For example,
bananas are selectively bred for their size, shape and easiness to peel. This means that plants
which express these characteristics are bred to produce more offspring with desirable
characteristics.
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Differences between natural and artificial selection:
Natural selection Artificial selection
Process occurs in nature without human Controlled by humans
interference
Organisms with advantageous traits survive Individuals with the desirable trait are
and reproduce and pass on the favourable chosen to breed together to produce
allele to the offspring offspring with the trait
Takes a long time to occur Takes less time
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