The Genome

 The entirety of an organism's DNA is known as its genome

 A gene is a section of a molecule of DNA

 Each gene within the genome codes for a particular sequence of amino acids

 These sequences of amino acids form different types of proteins

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

 There are many different types of proteins e.g.

o Structural proteins such as collagen found in skin cells

o Enzymes

o Hormones

Chromosomes

 In the nucleus of a cell, the DNA double helix supercoils to form structures
called chromosomes

o Chromosomes are only visible during cell division

 Ordinary human body cells contain 23 pairs of chromosomes, meaning that they
contain 46 chromosomes in total

o This is a diploid number (often shown as 2n)

o One chromosome from a pair is inherited from each parent

o Each chromosome pair is called a homologous pair

 Genes are found in specific locations on the chromosomes, these locations were
identified in the human genome project
Genes are short lengths of DNA that code for a protein. They are found on chromosomes.

Examiner Tips and Tricks

Remember that the number of chromosomes found in each species differs, for example,
humans have 23 pairs, dogs have 39 pairs and rice plants have 12 pairs

The Structure of DNA

 DNA, or deoxyribonucleic acid, is the genetic material found in the nucleus of a cell

 DNA, is a polymer made up of two strands coiled around to make a double helix

 The strands are formed from a sugar phosphate backbone with bases:

o Adenine (A)

o Thymine (T)

o Guanine (G)

o Cytosine (C)

 The bases are bonded together by complementary base pairing

o A pairs with T

o G pairs with C

 Cell division and protein synthesis both rely on these base-pairing rules because
each half of the DNA double helix acts as a template to be copied to create a
completely new double helix
The structure of DNA and complementary base pairs

Examiner Tips and Tricks

You are expected to know the names of each base so do make sure you use these
appropriately in exam answers, rather than just relying on the abbreviated letters.
RNA Structure
 Like DNA, the nucleic acid RNA (ribonucleic acid) is a polynucleotide

o It is made up of many nucleotides linked together in a long chain

 RNA nucleotides contain the nitrogenous bases adenine (A), guanine (G) and
cytosine (C)

 Unlike DNA, RNA nucleotides never contain the nitrogenous base thymine (T) – in its
place they include the nitrogenous base uracil (U)

 RNA molecules are only made up of one polynucleotide strand (they are single-
stranded)

 Each RNA polynucleotide strand is made up of alternating ribose sugars and

phosphate groups linked together, with the nitrogenous bases of each
nucleotide projecting out sideways from the single-stranded RNA molecule

 Examples of an RNA molecules are:

o messenger RNA (mRNA) which is the transcript copy of a gene that encodes a
specific polypeptide

o transfer RNA (tRNA) which is involved in protein synthesis

o ribosomal RNA (rRNA) which forms part of a ribosome

Messenger RNA (mRNA) provides a good example of the structure of RNA

Examiner Tips and Tricks

 The main differences you need to know between RNA and DNA:

o RNA is single-stranded

o RNA contains uracil instead of thymine

Transcription & Translation

 The process of turning a gene into a specific sequence of amino acids (that in turn
make up a specific protein) is split into two stages:

o Transcription – DNA is transcribed and an mRNA molecule is produced

o Translation – mRNA (messenger RNA) is translated and an amino acid

sequence (protein) is produced
Transcription

 The transcription stage of protein synthesis occurs in the nucleus of the cell, and its
role is to produce a copy of a section of DNA in the form of a strand of mRNA

 The sequence of events is as follows:

1. Part of the DNA molecule unwinds when hydrogen bonds between the
complementary base pairs (A-T, G-C) break

2. This exposes the template strand of the gene that codes for the protein being
synthesised

3. Free mRNA nucleotides that are present in the nucleus bind to

complementary nucleotides on the template strand

4. The mRNA nucleotides are joined to neighbouring nucleotides, forming

a single strand of mRNA

5. The mRNA molecule leaves the nucleus via a pore in the nuclear envelope

 The new strand of mRNA is a complementary copy of the DNA code from the original
gene

Transcription occurs in the nucleus and produces a molecule of single-stranded mRNA

Translation

 This stage of protein synthesis occurs in the cytoplasm of the cell, and results in the
production of a chain of amino acids that will go on to form a protein

 The process of translation is as follows:

1. After leaving the nucleus, the mRNA molecule attaches to a ribosome

2. In the cytoplasm there are free molecules of tRNA (transfer RNA); these tRNA
molecules have a triplet of unpaired bases at one end known as
the anticodon, and an amino acid at the other

a. Each specific anticodon corresponds to a specific amino acid

3. The anticodon on each tRNA molecule pairs with a complementary triplet

(codon) on the mRNA molecule, bringing its specific amino acid along with it

4. A second tRNA molecule attaches to its complementary codon (on the

mRNA), and a peptide bond is formed between the two neighbouring amino
acids

5. This process continues until a ‘stop’ codon on the mRNA molecule is reached;
this acts as a signal for translation to stop and at this point the amino acid
chain coded for by the mRNA molecule is complete

 This amino acid chain is then folded and modified to form the final protein molecule,
e.g. an enzyme or antibody
Translation occurs on the ribosomes in the cytoplasm, and results in the production of a
chain of amino acids. Note that you don't need to know the details about start codons
shown here.

Examiner Tips and Tricks

This is a tricky topic, so take your time learning it. Make sure that you understand the roles
of mRNA, ribosomes, codons and anticodons in the production of proteins.
Alleles
 A gene is a short length of DNA found on a chromosome that codes for a
particular characteristic (expressed by the formation of different proteins)

 Genes exist in alternative forms called alleles

 Alleles are variations of the same gene

o As we have two copies of each chromosome (one from each parent), 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 This means that the alleles do not code for the same thing

o 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

 Having alleles give rise to differences in inherited

characteristics and variation within species

Key Definitions
 The observable characteristics of an organism are called the phenotype

 The combination of alleles that control each characteristic is called the genotype

o Alleles are often given a lettered code such as Bb or BB or bb to easily

represent the genotype.

 Alleles can be dominant or recessive

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

o A recessive allele needs to be inherited from both parents 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)

 When completing genetic diagrams, alleles are abbreviated to single letters

o The dominant allele is given a capital letter and the recessive allele is given
the same letter, but lower case e.g.

o Homozygous dominant BB

o Heterozygous dominant Bb

o Homozygous recessive bb

Alleles are different forms of the same gene. You can only inherit two alleles for each
gene, and they can be the same (homozygous) or different (heterozygous).

Key terms & definitions for genetic inheritance table

Codominance
 On occasion, both alleles within a genotype are expressed in the phenotype of an
individual - this is known as codominance

 Inheritance of blood group is an example of codominance

o There are three alleles of the gene governing this instead of the usual two

o I represents the gene and the superscript A, B and O represent the alleles
 o Alleles IA and IB are codominant, but both are dominant to IO

o IA results in the production of antigen A in the blood

o IB results in the production of antigen B in the blood

o IO results in no antigens being produced in the blood

 These three possible alleles can give us the following genotypes and phenotypes

Codominance in blood types table

Genetic diagrams for codominance

 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’
Punnett square shows the inheritance of Blood Group

Interpreting the genetic diagram

 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
can 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

Polygenic Inheritance
 Most characteristics are a result of multiple genes interacting, rather than a single
gene

 Characteristics that are controlled by more than one gene are described as
being polygenic (poly = many/more than one)

 Polygenic characteristics have phenotypes that can show a wide range of

combinations of features

 The inheritance of these polygenic characteristics is called polygenic inheritance

 Polygenic inheritance is difficult to show using genetic diagrams because of the wide
range of combinations
  An example of polygenic inheritance is eye colour – while it is true that brown eyes
are dominant to blue eyes, it is not as simple as this as eye colour is controlled by
several genes

 This means that there are several different phenotypes beyond brown and blue;
green and hazel being two examples

Monohybrid Crosses
 Monohybrid inheritance is the inheritance of characteristics controlled by
a single gene

 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

 Remember the dominant allele is shown using a capital letter and the recessive
allele is shown using the same letter but lowercase

Constructing Punnett squares

 Determine the parental genotypes

 Select a letter that has a clearly different lowercase, for example, Aa, Bb, Dd (avoid
letters such as Cc or 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 percentage chances 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

Example of monohybrid inheritance: Pea plants

 The height of pea plants is controlled by a single gene that has two alleles: tall and
short

o The tall allele is dominant and is shown as T

o The small allele is recessive and is shown as t

A pure-breed short plant is bred with a pure-breed tall plant

 The term ‘pure breed’ indicates that the individual is homozygous for that
characteristic

A pure-breeding genetic cross in pea plants. It shows that all offspring will be have the tall
phenotype.

Crossing the offspring from the first cross

A genetic cross diagram (F2 generation). It shows a ratio of 3 tall : 1 short for any
offspring.

Interpreting the results

 All of the offspring of the first cross have the same genotype, Tt (heterozygous), so
the possible combinations of offspring bred from these
are: TT (tall), Tt (tall), tt (short)

 There is more variation in the second cross, with a 3:1 ratio of tall : short
  The F2 generation is produced when the offspring of the F1 generation (pure-
breeding parents) are allowed to interbreed

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:

A cross between a heterozygous plant with a short plant

Examiner Tips and Tricks

You will NOT be expected to explain the polygenic inheritance of characteristics using a
genetic diagram, you just need to be aware that many characteristics are controlled by
groups of genes and that this is known as polygenic inheritance.If you are asked to use your
own letters to represent the alleles in a Punnett square, try to choose a letter that is
obviously different as a capital than the lower case so the examiner is not left in any doubt
as to which is dominant and which is recessive.

Predicting Probabilities of Outcomes from Monohybrid Crosses

 Monohybrid inheritance is the inheritance of characteristics controlled by a single

gene

 This can be determined using a genetic diagram known as a Punnett square

Punnett squares with pea plants

 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

Crossing two heterozygous plants

A genetic cross diagram crossing two heterozygous pea plants. It shows a ratio of 3 tall : 1
short for any offspring.

Interpreting the results

 The possible combinations of offspring bred from two parents with Tt genotype
are: TT (tall), Tt (tall), tt (short)

o The Tt parent plants would have been produced from an F1 cross of two
homozygous plants: TT and tt (pure-breeding parents)

 The ratio for the offspring is 3:1 of tall : short

Calculating probabilities from Punnett squares

 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

 However, you can also make predictions of the offsprings’ characteristics by

calculating the probabilities of the different phenotypes that could occur

o For example, in the genetic cross above, two plants with the
genotype Tt (heterozygous) were bred together

o The possible combinations of offspring bred from these two parent plants
are: TT (tall), Tt (tall), tt (short

o The offspring genotypes showed a 3:1 ratio of tall : short

o Using this ratio, we can calculate the probabilities of the offspring phenotypes

o The probability of an offspring being tall is 75%

o The probability of an offspring being short is 25%

Family Pedigrees
 Family pedigree diagrams are usually used to trace the pattern of inheritance of a
specific characteristic (usually a disease) through generations of a family

 This can be used to work out the probability that someone in the family will inherit
the genetic disorder

Interpreting a family pedigrees

 Males are indicated by the square shape and females are represented by circles

 Affected individuals are red and unaffected are blue

 Horizontal lines between males and females show that they have produced
children (which are shown underneath each couple)

 The family pedigree below shows:

o both males and females are affected

o every generation has affected individuals

o one family group that has no affected parents or children

o the other two families have one affected parent and affected children as well
A family pedigree chart

Sex Chromosomes
 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
The sex chromosomes that a biological female and male possess.

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Inheritance of Sex

 Sex is determined by the two sex chromosomes, X and Y

 Males carry chromosomes XY and females XX

 Due to this it is the male who determines the sex of offspring as

o The mother can only pass on an X chromosome

o The father can pass on either an X or a Y chromosome

 Therefore the offspring can inherit:

o An X from the mother and an X from the father: this child will be a female

o An X from the mother and a Y from the father: this child will be a male
Sperm cells determine the sex of offspring

Genetic diagrams showing determination of sex

 The inheritance of sex can be shown using a genetic diagram (known as a Punnett
square), with the X and Y chromosomes taking the place of the alleles usually written
in the boxes
Mitosis
 Mitosis is defined as nuclear division giving rise to genetically identical cells

 Mitosis is used for:

o growth

o repair of damaged tissues

o replacement of cells

o asexual reproduction

 Most body cells have two copies of each chromosome

 We describe these cells as diploid

 When cells divide their chromosomes double beforehand (also known as

duplication)

 This ensures that when the cell splits in two, each new cell still has two copies of
each chromosome (is still diploid)

The process of mitosis

 Just before mitosis, each chromosome in the nucleus copies itself exactly (forms X-
shaped chromosomes)

 Chromosomes then line up along the centre of the cell where cell fibres pull them
apart

 The cell divides into two; each new cell has a copy of each of the chromosomes
The process of cell division by mitosis

Importance of Mitosis

 All cells in the body (excluding gametes) are produced by mitosis of the zygote
  Mitosis occurs during:

o Growth: mitosis produces new cells

o Repair: to replace damaged or dead cells

o Asexual reproduction: mitosis produces offspring that are genetically

identical to the parent

 Mitosis is important for replacing cells e.g, skin cells, and red blood cells, and
for allowing growth (production of new cells e.g. when a zygote divides to form an
embryo)

Meiosis
 Meiosis is a type of nuclear division that gives rise to cells that are genetically
different

 During meiosis, the number of chromosomes must be halved to form the new cells;
these new cells are called gametes (sex cells)

o We describe gametes as being haploid - having half the normal number of

chromosomes

o There would be double the number of chromosomes after they join at

fertilisation in the zygote (fertilized egg) if this did not happen

 Meiosis is important for

o The production of gametes e.g. sperm cells and egg cells, pollen grains and
ovum

o Increasing genetic variation of offspring

The process of meiosis

 Meiosis starts with chromosomes doubling themselves, as in mitosis, and lining up in

the centre of the cell

 After this has happened the cells divide twice so that only one copy of each
chromosome passes to each gamete

o First division: chromosomes pair up along the centre of the cell, then cell
fibres will pull the pairs apart, and each new cell will have one chromosome
pair

o Second division: chromosomes will line up along the centre of these cells,
and cell fibres will pull them apart

 A total of four haploid daughter cells will be produced, these are the gametes
The process of cell division by meiosis to produce haploid gamete cells

Comparing Mitosis & Meiosis

Comparing Mitosis & Meiosis Table

Examiner Tips and Tricks

Questions on cell division often ask for differences between mitosis and meiosis. Learn two
or three and remember to BE SPECIFIC when giving your answer. You should also know the
reasons for a specific type of cell division taking place and the types of cells where each
happen.

Random Fertilisation & Genetic Variation

 Meiosis creates genetic variation between the gametes produced by an individual

 This means each gamete carries substantially different alleles

 During fertilisation, any male gamete can fuse with any female gamete to form a
zygote

 This random fusion of gametes at fertilisation creates genetic variation between

zygotes as each will have a unique combination of alleles

 Zygotes eventually grow and develop into adults

 Examples of genetic variation in humans include:

o Blood group

o Eye colour

o Gender

o Ability to roll tongue

o Whether ear lobes are free or fixed

Whether earlobes are attached (lobeless) or free (lobed) is an example of genetic variation

Diploid vs Haploid
 A diploid cell is a cell that contains two complete sets of chromosomes (2n)

o These chromosomes contain the DNA necessary for protein synthesis and cell
function

o Nearly all cells in the human body are diploid with 23 pairs (46) of
chromosomes in their nucleus

 Haploid cells contain one complete set of chromosomes (n)

o In other words they have half the number of chromosomes compared to

diploid cells

o Humans have haploid cells that contain 23 chromosomes in their nucleus (no
pairs)

o These haploid cells are called gametes and they are involved in sexual
reproduction

o For humans they are the female egg and the male sperm
Types of Variation
 Variation is defined as differences between individuals of the same species

 Variation can be caused by:

o differences in genes brought about by random fertilisation of gametes

o environmental factors

o a combination of both

Environmental Variation

 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:

o an accident may lead to scarring on the body

o eating too much and not leading an active lifestyle will cause weight gain

o being raised in a certain country will cause you to speak a

certain language with a certain accent

o a plant in the shade of a big tree will grow taller to reach more light

Genetic and Environmental Causes

 Discontinuous variation is usually caused by genetic variation alone

  Continuous features often vary because of a combination of genetic and
environmental causes, for example:

o tall parents will pass genes to their children for height

o their children have the genetic potential to also be tall

o however if their diet is poor then they will not grow very well

o therefore their environment also has an impact on their height

 Another way of looking at this is that although genes decide what characteristics we
inherit, the surrounding environment will affect how these inherited characteristics
develop

Mutations
 Mutations are rare, random changes that occur in the sequence of DNA bases in a
gene or a chromosome

 Mutations can be inherited

 They occur continuously

 As the DNA base sequence determines the sequence of amino acids that make up a
protein, mutations in a gene can sometimes lead to a change in the protein that the
gene codes for

o Most mutations do not alter the protein or only alter it slightly so that its
appearance or function is not changed

Changes in DNA can Affect the Phenotype

 A change in DNA can affect the phenotype of an individual by altering the sequence
of amino acids in a protein

 There are three main ways that the sequence of DNA can be changed (which will
alter the sequence of amino acids in the protein)

o Insertion of a new base into the DNA sequence

o Deletion of a base within the DNA sequence

o Substitution of a base within the DNA sequence

Insertions

 A new base is randomly inserted into the DNA sequence

 An insertion mutation changes the amino acid that would have been coded for by
the group of three bases in which the mutation occurs
 o Remember – every group of three bases (codon) in a DNA sequence codes for
an amino acid

 An insertion mutation also has a knock-on effect by changing the groups of three
bases further on in the DNA sequence

An example of an insertion mutation

Deletions

 A base is randomly deleted from the DNA sequence

 Like an insertion mutation, a deletion mutation changes the amino acid that would
have been coded for by the group of three bases in which the mutation occurs

 Like an insertion mutation, a deletion mutation also has a knock-on

effect by changing the groups of three bases further on in the DNA sequence

Substitutions

 A base in the DNA sequence is randomly swapped for a different base

 Unlike an insertion or deletion mutation, a substitution mutation will only change

the amino acid for the group of three bases in which the mutation occurs; it
will not have a knock-on effect
An example of a substitution mutation

The Effects of Mutations

 Most mutations do not alter the protein or only alter it slightly so that its
appearance or function is not changed

 Therefore there is no effect on the phenotype

 Some mutations can have a small effect on the protein or organism

 However, a small number of mutations code for a significantly altered protein with
a different shape

 This may affect the ability of the protein to perform its function. For example:

o If the shape of the active site on an enzyme changes, the substrate may no
longer be able to bind to the active site

o A structural protein (like collagen) may lose its strength if its shape changes

 On rare occasions mutations lead to the development of new alleles and so new
phenotypes

 Occasionally, the new allele (and its resulting phenotype) gives the individual
a survival advantage over other members of the species

 For example:

o A bird develops a mutation leading to a change in feather colours

o This makes it more attractive to birds of the opposite sex

o Therefore the bird will breed more frequently and have more chances of
passing on the mutated phenotype to the next generation
  Mutations can also lead to harmful changes that can have dramatic effects on the
body - for example the red blood cell disorder, sickle cell anaemia in humans

The Causes of Mutations

 Mutations happen spontaneously and continuously but their frequency can be

increased by exposure to the following:

o Gamma rays, x-rays and ultraviolet rays - all types of ionising radiation which
can damage bonds and cause changes in base sequences

o Chemical mutagens - for example, chemicals such as tar in tobacco

 Increased rates of mutation can cause cells to become cancerous, which is why the
above are linked to increased incidence of different types of cancer

Darwin's Theory of Evolution by Natural Selection

 Charles Darwin proposed the theory of evolution by natural selection

 Darwin's theory states that evolutionary change has occurred, and that natural
selection is the process that has driven this change

 The process of natural selection is as follows:

o Individuals in a species show variation that is caused by differences in genes

o Individuals with characteristics that are advantageous in their environment

have a higher chance of survival

 This idea of natural selection became known as ‘survival of the fittest'

o Surviving individuals are more likely to reproduce and so are more likely to
pass on their advantageous alleles

o Over many generations the advantageous characteristics become more

common in the population

Examples of evolution by natural selection

Example 1: snail shell colour

Example 2: peppered moth colour
Examiner Tips and Tricks

There are many examples of natural selection, and an exam question may present an
unfamiliar one for you to explain; it is important to learn the basic stages so that you can
apply them to any example provided

 All populations contain genetic variation

 Some genetic variants will result in characteristics that are advantageous

and increase survival chances

 Surviving individuals are more likely to reproduce and pass on their advantageous
traits

 Over many generations the advantageous traits become more common in the
population
Antibiotic Resistance
 Natural selection can give rise to bacterial populations that are resistant
to antibiotics

 Antibiotic resistance can increase in bacterial populations as follows:

o a random mutation can give rise to a new bacterial allele that codes
for antibiotic resistance

o when the bacterial population is exposed to an antibiotic any individuals

without the resistance allele die, while those with the resistance allele
survive

o the surviving bacteria are more likely to reproduce, passing on their

resistance alleles to their offspring

o over several generations the frequency of the resistance allele increases,

eventually resulting in an antibiotic resistant strain of bacteria

 Once a bacterial population has developed resistance to a particular antibiotic, it can

only be treated with the application of a different antibiotic; in some cases several
antibiotics need to be used to treat a resistant infection

 Antibiotic resistance therefore makes bacterial infections more difficult to control

Bacteria can develop resistance to commonly used antibiotics

Examiner Tips and Tricks

Remember that antibiotic resistance arises by natural selection, so any description of how
antibiotic resistance occurs must include the main steps of natural selection:

 Variation: random mutation gives rise to a resistance allele

 Increased survival: individuals with the resistance allele are more likely to survive

 Increased reproduction: the resistance allele is passed on

 Increased allele frequency: the resistance allele becomes more common in the
population