Manchester International School Year (8) Term (3) Biology

INHERITANCE
DNA structure

DNA is the molecule that holds the instructions for growth and development in every living thing. Its
structure is described as a double-stranded helix held together by complementary base pairs.

The basic units of DNA are nucleotides. These nucleotides consist of a deoxyribose sugar, phosphate and
base.

The nucleotides are identical except for the base, which can be an adenine, thymine, guanine or cytosine.
There are chemical cross-links between the two strands in DNA, formed by pairs of bases held together by
hydrogen bonds. They always pair up in a particular way, called complementary base pairing:

• thymine pairs with adenine (T-A)

• guanine pairs with cytosine (G-C)

1|Page
Manchester International School Year (8) Term (3) Biology
The Structure of Genes

Inheritance of Chromosomes, Genes and DNA

• Inheritance is the transmission of genetic information from generation to generation

• Chromosomes are located in the nucleus of cells

• They are thread-like structures of DNA, carrying genetic information in the form of genes

• A gene is a short length of DNA found on a chromosome that codes for a specific protein

• This could be a structural protein such as collagen found in skin cells, an enzyme or a hormone

• Genes control our characteristics as they code for proteins that play important roles in what our cells do

• Alleles are different versions of a particular gene. The ABO gene for blood group type has
three alleles, IA, IB and IO
• Alleles give all organisms their characteristics

Inheritance Definitions

• 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

o One of the alleles is inherited from the mother and the other from the father

o 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

2|Page
Manchester International School Year (8) Term (3) Biology

o A dominant allele only needs to be inherited from one parent in order for the characteristic to
show up in the phenotype

o A recessive allele needs to be inherited from both parents in order for the characteristic to show
up in the phenotype.

o 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)

o 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)

3|Page
Manchester International School Year (8) Term (3) Biology
Alleles of a gene can carry the same instructions or different instructions. You can only inherit two alleles for
each gene, and they can be the same or 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

Eye colour

There are different alleles that code for eye colour

• Blue eye allele (b) is recessive

• Brown eye allele is dominant (B)

A brown eyed individual can therefore have two possible genotypes: BB or Bb

A blue eyed individual can only have one possible genotype: bb

Example 1 – Homozygous recessive (bb) X Heterozygous(Bb)

Consider a brown eyed person with genotype BB having a child with another person with blue eyes genotype bb

You can use the punnet square to look at all the possible genotypes of the child.

In this scenario, the chance of a blue eyed child is 2/4 and the chance of a brown eyed child is 2/4 , therefore
the ratio is 1:1

Example 2 – Homozygous recessive (bb) vs Homozygous dominant (Bb)

Consider a brown eyed person with genotype Bb having a child with another person with blue eyes genotype bb

4|Page
Manchester International School Year (8) Term (3) Biology
In this scnerario, the chance of a blue eyed child is 0/4, and the chance of a brown eyed child is 4/4.

Example 3 – Heterozygous (Bb) X heterozygous (Bb)

Consider a brown eyed person with genotype Bb having a child with another person with brown eyes genotype
Bb

In this case, the chance of a blue eyed child is 1/4, and the chance of a brown eyed child is 3/4. The ratio of
blue:brown is 1:3

• Inheritance key terms summary table

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

5|Page
Manchester International School Year (8) Term (3) Biology
• 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

A pure-breeding
genetic cross in pea plants showing a 100% heterozygous outcome from the cross

6|Page
Manchester International School Year (8) Term (3) Biology

• 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

A genetic cross diagram (F2

Generation) with a 3:1 possible outcome of offspring phenotypes

• 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

7|Page
Manchester International School Year (8) Term (3) Biology
• 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

A cross between a
heterozygous plant with a short plant

• 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

o 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

8|Page
Manchester International School Year (8) Term (3) Biology

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

9|Page
Manchester International School Year (8) Term (3) Biology

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

o They may suffer strokes, blindness, or damage to the lungs, kidneys, or heart.

o They must often be hospitalised for blood transfusions

Sickle cell anaemia diagram

10 | P a g e
Manchester International School Year (8) Term (3) Biology

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

o 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 Down syndrome, or as Trisomy 21

11 | P a g e
Manchester International School Year (8) Term (3) Biology

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:

o Meiosis

▪ The cell division that gives rise to gametes produces daughter cells which contain new
combinations of alleles

o 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

o 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:

12 | P a g e
Manchester International School Year (8) Term (3) Biology
o Ionising radiation, e.g. gamma rays, x-rays and ultraviolet rays

o 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

Punnett square showing the inheritance of blood group

• The parent with blood group A has the genotype IAIO

• The parent with the blood group B has the genotype IBIO

• 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

• Inherited Diseases
INHERITED NOTES
DISEASE

Cystic Fibrosis 🥵 - In Cystic Fibrosis, the cells in the lungs

make mucus more thicker than usual
- It decreases the efficiency of the gas exchange surfaces
due to the trapped mucus
- The mucus made blocks the pancreatic duct and
prevents digestive juices from
flowing, affecting digestion

Haemophilia 🩸 - In haemophilia, the blood in a person’s body fails to

clot when there is a cut or
wound.
- It is caused by the inheritance of a defective gene
that prevents blood clotting

Sickle Cell Is a genetic disease where the red blood cells become sickle
Anaemia 🩸 shaped in the absence
of oxygen
Downs Syndrome - Is another genetic disorder where the chromosomes
🧬 21s fail to separate during
meiosis in a woman’s ovaries.
- This means that an extra chromosome 21 will be in the egg
cell; if it gets fertilised,
then the zygote will have 47 chromosomes instead of 46!
- Children with downs syndrome are usually extremely
friendly people and have heart
diseases when they grow up

13 | P a g e
Manchester International School Year (8) Term (3) Biology

Sex Linkage

A sex-linked characteristic is one in which the gene responsible for a particular function is located on a sex
chromosome, which makes it more common in one sex than the other.

• The sex chromosomes X and Y not only determine your gender; they contain other genes as well.

• The X chromosome has a larger chromatid than the Y chromosome. Thus the genes present on the X
chromosome (apart from the gene for your sex) will not be present on the Y chromosome.

• This means that if an X chromosome has a gene for colour blindness 👁, The Y chromosome will not have
the gene; this can lead to a male having colour blindness being born as the X chromosome is dominant
and there is no recessive allele on the Y chromosome.

• Similarly when an X chromosome (from a female) with a gene for colour blindness fuses with another X
chromosome (from a male) with a recessive allele for the same gene, an offspring who is the carrier of
colour blindness is born.

Hence colour blindness is more common due to these reasons in males rather than in females as:-

1. There is less chance of a recessive allele being expressed in a female (XX) because the other X
chromosome may carry the dominant form of the allele.

2. The male chromosome doesn’t have a recessive allele.

The 5 possible phenotypes and their genotypes for red-green colour blindness are:

1. XBXB : Woman with normal vision

2. XBXb: Woman with normal vision (who is a carrier)

3. XbXb: Woman with red-green colour blindness

4. XBY: Man with normal vision

5. XbY: Man with red-green colour blindness

14 | P a g e
Manchester International School Year (8) Term (3) Biology
Inheritance of sex linked characteristics

Let us see a much more simplified genetic diagram that will help explain the inheritance of sex linked
characteristics.

In the following case, a male without red-green colour blindness (XBY) mates with a female with its carrier gene
(XBXb). Let’s see what will happen now!

Parent 1
Parental
Genotypes
XB Xb

XBXB XBXb
XB (Female without Red-Green (Female with Red-Green Colour
Colour Blindness) Blindness Recessive Allele)
Parent 2

XBY XbY
Y (Male without Red-Green Colour (Male with Red-Green Colour
Blindness) Blindness)

The genetic diagram predicts that about half of their male children will have red-green colour blindness;
whereas all of their female children will have normal vision.

15 | P a g e