BIOLOGY

UNIT 4: GENETICS & REPRODUCTION

Reproduction (B13):

Types of reproduction
• Reproduction is when genetic information in the chromosomes are passed onto children
• There are t wo different types of reproductions- asexual reproduction and sexual
reproduction

• In asexual reproduction, there is no fusion of gametes and only one parent

There is no mixing of genetic information, leading to genetically identical offspring
(clones)
Only mitosis is involved in asexual reproduction
Asexual reproduction is common in the smallest animals and plants, as well as fungi and
bacteria
Some larger plants like daffodils and strawberries reproduce asexually

• Sexual reproduction involves the fusion of male and female gametes, formed by meiosis
Meiosis leads to the formation of non-identical cells: sperm and eggs in animals, and
pollen and egg cells in flowering plants
In sexual reproduction there is a mix of genetic information that leads to variation in the
offspring
Sexual reproduction is risky as it relies on t wo sex cells, but it allows for variation which
allows species to adapt and survive better
Cell division in reproduction

• Mitosis takes place constantly, in tissues and when organism reproduce asexually
• However, there is another type of cell division called meiosis, resulting in gametes, which
only have half the original number of chromosomes
• In animals, the female gametes (egg cells/ova) are made in the ovaries, whereas male
gametes (sperm) are made in the testes
• The gametes are formed by meiosis, where chromosome number halves
• In a body cell, there are t wo sets of each chromosome, one inherited
• from each parent

When a cell divides to form gametes:

• The genetic information is copied so there are four sets of each
chromosome instead of t wo normal sets (each chromosome forms a pair
of chromatids)
• The cell then divides t wice in quick succession to form four gametes,
each with a single set of chromosome

• All gametes are genetically different from each other as they contain random mixtures of
the original chromosome- this introduces variation
• The combination of genes of every newly fertilized egg is unique
• Once fertilization is complete, the unique new egg cell begins to divide by mitosis to form a
new individual
• Gametes join at
fertilization to restore
the normal number of
chromosome andthe new cell
divides by mitosis and the
number of cells increase to
form an embryo
The best of both worlds

• Some organisms depend on both asexual and sexual reproduction depending on the
circumstances
• The most common form of reproduction in fungi is asexual, the most common parts you see,
e.g toadstools, are asexual fruiting bodies full of spores
The fungal spores are produced by mitosis and they are genetically identical to their parent
• Some fungi reproduce sexually if weather isn’t optimal/ to give variation- it undergoes
meiosis to make haploid spores
&
Haploid refers to the presence of a single set of chromosomes, sexually reproducing
organisms are diploid (t wo sets of chromosomes from each parent) e.g gametes are haploid
• Malaria parasites reproduce sexually in mosquitoes and asexually in their human host

Advantages of sexual reproduction Advantages of asexual reproduction

Produces variation in offspring, Only one parent is needed, making it
where characteristics change to time efficient as organisms don’t need
survive better to (find a) mate
It allows for selective breeding, so Since it doesn’t need a mate, it uses
we can produce organisms with the less energy and happens much faster
most desirable characteristics e.g In favorable conditions, lots of
to increase food production identical offspring can be produced
 DNA and the genome

• Inside the nuclei of all cells, your chromosomes are made up of long molecules of a chemical
called deoxyribonucleic acid (DNA)
• Your genes are small sections of this DNA where genetic information that determines
inherited information is stored
• Each gene codes for a particular sequence of amino acids to make a specific protein
• The genes control proteins, which control the different specialized cells that form tissues

• The genome of an organism is the entire genetic material of that organism

This includes all the chromosomes and genetic material found in mitochondria (they contain
their own DNA which is inherited from the mother)
• In 2003, scientists announced they had managed to sequence the human genome which will
have great important for medicine
• The human genome contains over 3 billion base pairs and almost 21,000 genes that code for
proteins
• Understanding the human genome helps us understand inherited disorders such as cystic
fibrosis

DNA structure

• DNA is found in the nucleus of cells and controls protein synthesis

• DNA is made of small parts called nucleotides
• The long strands of DNA are made up of alternating sugar and phosphate sections, making
up the backbone of the molecule
• Attach to each sugar is one of four bases- Adenine, Thymine, Cytosine, Guanine
• Each nucleotide is made up of a sugar molecule, phosphate molecule and one of the four
types of organic bases
• Each DNA is made up of t wo DNA strands which are t wisted together, each base is
connected to another on the other strand
A pairs with T and C pairs with G (remember Apples in the Trees, Cars in the Garage)
• The DNA polymer is made up of repeating nucleotide units
• The key to the structure and functioning of the DNA molecule is
the way these bases join up- in complementary strand
• There are 20 types of amino acids, therefore it is the order of
bases in DNA that determines which proteins are produced
• RNA is a messenger in the form of DNA that copies bases from
DNA so the code can be removed and to the ribosomes in cells
• RNA has the same code but A pairs with U, there is no T

• Protein synthesis in he cell is controlled by the DNA in the

nucleus in a series of steps:
Genes in the DNA produce a template for the protein, it reflects the
sequences of bases in the DNA but it small enough to leave the
nucleus through the pores of the membrane
1) The template leaves the nucleus and binds to the surface of a
ribosome
2) The t wo strands pull apart and mRNA nucleotides (messenger RNA) match to their
complementary base on the strand
3) The cytoplasm contains carrier molecules, each attached to a specific amino acid, and to the
template in the order given by the DNA
4) The amino acids are joined together to form a specific protein
5) Carrier molecules keep bringing specific amino acids to add to the growing protein chain in the
correct order until the template is completed
6) The protein detaches from the carrier molecules and the carrier molecules detach from the
template and return to the cytoplasm to pick up more amino acids
• Once the protein chain is complete the molecule folds up to form a unique shape so it can
carry out its functions
• Any change in order of the bases in the DNA structure of a gene will alter the template made

Smallest to largest organization of genetic material

Genome Chromosomes Gene Nucleotide DNA

• Remember the nucleotide (a section of DNA) is made up of one phosphate, sugar and base
 Gene expression and mutation

• Not all parts of DNA code for proteins, non-coding parts switch genes on and off so variation
in these areas of DNA can affect how genes are expressed
Each gene can control the synthesis of lots of different proteins depending on how much of a
gene is switched on and off
• A change in DNA structure may result in a change in the protein synthesized by the gene
• Mutations occur continuously, most do not alter the protein or alter it so slightly the
function isn’t affected
• A few mutations cover for an altered protein with a different shape, affecting the function
This could be an advantage (e.g producing a more efficient enzyme) or disadvantage

Insertion-
A base in inserted into the code
It may change all the amino acids code for after this insertion
Deletion-
A base is deleted
like insertions, they change the
way it is read
Substitution-
A base is substituted, which only changes one amino acid (or not at all as the sequence may still
code for the same amino acid)

• A change in the sequence of amino acids will affect the way it folds and therefore the structure
• Most don’t have a serious effect, but some could change the shape, resulting the substrate not
fitting the active site so it can’t act as a protein
• There can also be mutations in the non-coding parts of DNA that control whether the genes are
expressed
• Insertion is worse than substitution as it shifts the whole base, making the amino acid structure
completely different

• It is now understood that variation bet ween t wo organisms arise because:

1) The coding DNA that determines the proteins and their activities
2) The non-coding DNA that determines which genes are expressed
Inheritance in action

Definitions of key terms:

Gamete An organisms reproductive cell

Chromosome A structure found in the nucleus which is made of al one strand of DNA
Gene A short section of DNA that codes for a protein, thus contributing to a
characteristic
Alleles The different forms of genes- humans have t wo alleles per inherited gene
Dom. allele Only one allele is needed to be expressed and for the corresponding phenotype
to be observed e.g BB or Bb
Rec. allele Two copies are needed for it to be expressed must be bb
Homozygous When both inherited alleles are the same (e.g t wo recessive alleles)
Heterozygous When one is dominant the other is recessive
Genotype The combination of alleles an individual has e.g A
Phenotype The physical characteristics that are obser ved e.g eye colour

• The chromosomes you inherit carry your genetic information in the form of a gene; each gene
may have different forms called alleles
The alleles present, or genotype, operate at a molecular level to develop characteristics that
can be expressed as the phenotype
• If t wo alleles are the same, the individual is homozygous for that trait,
but if the alleles are different, they are
heterozygous
• Some alleles are exposed in the phenotype
when only one is present- the dominant allele
(use a capital to represent dominant)
• A genetic cross is when you consider
potential offspring that might result from
t wo known parents
• You may model genetic crosses using a genetic diagram such
as a punnet square to predict the outcome/possibilities
• Use direct proportion for punnet squares determination, e.g
this diagram shows there is 4/4 or 100% chance of being tall
Note: it will always be dominant unless t wo lowercase is selected
 Inherited disorders

• Some disorders are the result of a change in the base or coding and can be passed down from
parent to child- an inherited disorder

Polydactyl
• Some babies are born with an extra finger or toe
• It is most commonly caused by a dominant allele (only needs one ‘uppercase’ in a punnet square)
• if you have polydactyl and heterozygous (Pp), you have a 50% chance of passing on your gene,
and will definitely pass the condition down if you are homozygous

Cystic fibrosis
• Disorder of the cell membrane, resulting in thick mucus in the air ways and pancreas
• The reproductive system is also affected, so many are infertile
• It is caused by a recessive allele, so it must be inherited from both parents/ both must be
carriers

• So far, there is no way to cure genetic disorders but scientists hope that genetic engineering
will be able to replace faulty alleles
• Genetic tests are now available to show people if they carry faulty alleles or check the child
• Embryonic screening allows scientists to observe whether the child will have a genetic
condition or not
• If the embryo is developed in the lab, cells can be taken and analyzed, or DNA can be extracted
from the womb but raises economic, social and ethical issues

Arguments for embryonic screening Arguments against embryonic screening

Reduces number of people suffering with Could encourage picking characteristics (ethical)
conditions (ethical) Its’ expensive to carry out (economic)
Treating disorders ends up more Procedure can lead to miscarriage (social)
expensive (economic) May then choose to terminate pregnancy (social)
There are many regulations in place to May suggest those with the disorders are
stop it getting out of hand (social) unwanted (social)
 Variation & evolution (B14):

Variation

• Variation is the differences in the characteristics of individuals in a population

• The phenotype (appearance) an organism has depends on t wo things
1) Genotype (nature): the genes it inherited
The combining of genes creates genetic variation, so only identical t wins have the same
genotype
2) Environmental (nurture): the place it lives in
The condition the organism grows and develops in also affects its appearance e.g scars or
smaller leaves
• Sometimes characteristics can result from a combination such as weight

Evolution by natural selection

Evolution- A gradual change in the characteristics of a population over time through

natural selection
Natural selection- Organisms best adapted to their environment will survive and produce
offspring
Mutation- A change in DNA code that can lead to a change in phenotype

• In a population, there will be variation bet ween individuals. Some will have features that
will help them to survive better in their environment, and they will reproduce while
others die before given the chance to reproduce- this is survival of the fittest
• The theory of evolution by natural selection states that all species have evolved from
simple life forms that first developed over 3 billion years ago
• Mutations occur continuously, but rarely lead to a new phenotype, but if it’s suited to its
environment, it can lead to a rapid change in the species
Selective breeding

• Selective breeding is a process where humans breed plants and animals for desired
characteristics such as: disease resistance, increased food production, gentle nature and
smaller size in domestic animals
• This works by getting the best organism in a litter with the desired trait and getting it to
breed with another with the characteristics
• This is done over several generations so natural selection results in that characteristic being
very common in offsprings from then on
• However, problems can occur with selective breeding causing genetic defects due to a narrow
gene pool as the numbers of alleles reduce
• This may be due to lots of inbreeding if the desired characteristic doesn’t expand a lot in a
species or humans want a trait that isn’t beneficial to the animal e.g being smaller could lead
to a smaller nose causing breathing difficulties

Genetic engineering

• Genetic engineering is the modification of an organism’s genome by introducing a gene from

another organism to give a desired characteristic
• Genes can be transferred to the cells of animals and plants at an early stage of their
development so they develop their desired characteristics
• Plants cells have been engineered for disease resistance and larger fruits (higher yield) and
bacterial cells have been engineering to produce substances useful to humans
• It may be possible to use it to cure inherited disorders using gene therapy

The process:
• Genes form chromosomes are ‘cut out’ using restriction enzymes, leaving sticky ends (short
sections of exposed, unpaired bases)
• A virus or bacterial plasmid is cut out using the same restriction enzyme to create stick
ends (this also contains an antibiotic marker gene)
• The loop and gene stick ends then join together by DNA ligaments enzymes
• This combine loop is placed in a vector e.g bacterial cell (or meristematic cell in plants) to
multiply as it contains the modified gene
• As the cell grows we can see how if it reacts the desired way
 Benefits of genetic engineering Risks of genetic engineering
It can be used in medicine to produce GM crops are infertile so gene could spread to
certain hormones wild plants
In agriculture it can improve yields to we may not understand the full effects of GM
improve growth and fight diseases crops on human health
Crops with extra vitamins can be produced Used on humans could lead to designer babies
Greater yields can hep solve world hunger Could result in an increased resistance in pests

Cloning

• Cloning is creating genetically identical copies of an organisms

Methods of plant cloning:

1) Tissue culture: preserving rare plant species or commercially in plant nurseries
• Uses small groups of cells taken from a plant to grow identical new plants
• Grown in a growth medium with nutrients and hormones

2) Cuttings: An older, easier method to produce clones

• Cuttings, such as a section of the stem, are taken from a plant with desirable features
• They are planted and produce clones as they are genetically identical to the parent

Methods of animal cloning:

1) Embryo transplants: splitting apart cells and developing animal embryo before they
become specialized and transplanting into mother
• The offspring which is eventually born is genetically identical (with the desirable
features) as they have the same genetic information

2) Adult cell cloning: nucleus is removed from an unfertilized egg cell and replaced with an
adult body cell
• Through the stimulation of an electric shock, the egg cell begins to divide to form an
embryo
• The embryo is implanted into the womb and is born into a clone
 Benefits of cloning Risks of cloning
Produces offspring with specific Gene pool is reduced so it will struggle to
desirable features adapt if need be
Study of clones could help research Clones have a low survival rate and tend to
into embryo development have genetic problems
Can help extremely endangered species May lead to human cloning
or even bring back extinct species

Genetics & evolution (B15):

History of genetics

• In the mid 1800s, Gregor Mendel carried out breeding experiments on plants (particularly
peas) and observed that inheritance of each characteristic is determined by ‘units’ that are
passed on unchanged to descendants
• He worked in monastery gardens where he observed alleles were not always directly passed
on by offspring
• He concluded that offspring have some characteristics from parents as they inherit
‘hereditary units’ which could be either dominant or recessive but not mixed

• Later that century, behavior of chromosomes during cell division was observed
• In the early 20th century, it was observed that chromosomes
and Mendel ‘units’ behaved in similar ways and ‘units’ were
then known as genes, located in chromosomes
• A few decades later, the structure of DNA
was determined and the mechanism
of gene function was worked out
 Theories of evolution

Jean-Baptiste Lamarck
• He thought changes that occurred in a lifetime developed of an organism were passed onto
offspring
• If an individual continually repeated an action, the characteristic would allow it to
develop further e.g if a giraffe stretched to reach trees high up, its neck would become
longer and so passed onto its offspring
• He was proven wrong when it was understood changes caused by the environment weren’t
passed on in the sex cells

Charles Darwin
• Scientist and naturalist
• Put for ward the theory of evolution by natural selection that was supported by
experimentation of geology and fossils that he discovered on a world expedition
• Published ‘On the Origin of Species’ in 1859

• There were lots of controversies surrounding his ideas because:

1) It contradicted the largely religious belief that God was the creator of all species
2) There wasn’t enough evidence at he time as few studies had been done on how
organisms change
3) The mechanism of inheritance and variation were not known at the time

The theory of evolution

• Variation exists within species as result of mutations in DNA
• Organisms with characteristics most suited to the environment are most likely to sur vive
to reproductive age and breed successively— this is called survival of the fittest
• The beneficial characteristics are then passed on to the next generation over natural
selection
• Over many generations the frequency of alleles for this advantageous characteristic
increase within the population
 Evolution and speciaiton

• Speciation is the process of a new species developing through the selection of different alleles
• Alfred Russel Wallace independently proposed the theory of evolution by natural selection
• He published joint writings with Dar win in his book ‘The Origin of Species’
• Wallace worked worldwide gathering evidence for evolutionary theory and best known for
warning color action in animals and his theories on speciation

The theory of speciation is:

• Sometimes in a species random genetic mutation can occur in DNA to cause physical differences
in an individual
• If the variation is useful, the individual will survive and breed to pass the mutated gene to the
next generation
• Sometimes a species is split into different groups which may be physically by rivers and
mountains or when organisms breed at different seasons or times of days- this is known as
isolation
• When isolation occurs, genetic mutations only affect the individuals nearby so mutation does
not affect the rest of the species as they are separated
• When the barrier is removed the groups can meet again but cannot breed as they are so
different- they have developed into a new species

• Most scientists believed life evolved bet ween 3-4 billions years, because although there were
no records, we can learn a lot from fossils
• Fossils are the remains of organisms from millions of years ago that can be found in rocks, ice,
and other places
• Fossils may be formed in different ways including the absence of decay, parts are replaced by
minerals as they decay to preserve traces of the organism to give us information of how the
anatomy has changed, which is used to create evolutionary trees
They may also be formed through footprints and burrows due to ground hardening around
them, and teeth, shells and bones being replaced by minerals
• However, it is difficult to know exactly how life started on Earth as many organisms were soft
bodied, so left few traces behind and many of which would be destroyed by geological activity
 Extinction

• Extinction is when an entire species dies out

• As conditions change, new species evolve that are better suited to survive, so older species
cannot cope and die out
Extinction may be caused by:
1) New predators can prey and wipe out organisms quickly if the prey animal does not adapt
to help avoid them
2) New diseases can cause a whole species to die out from, typically on islands where the
population is close together and there are no resistant alleles
3) Successful competitor where mutations give one species a bigger advantage
4) Catastrophic event in one area that wipes out the species

Resistant bacteria

• Bacteria are labelled resistant when they are not killed by antibiotics which previously were
used as cures
• Bacteria can reproduce at a fast rate so mutations during reproduction can result in new genes,
such as antibiotic resistance- this creates a new strain
• These strains will then spread quickly from people to people as they cannot be immune as there
isn’t any effective treatment
• An example is MRSA:
Known as the ‘s uperbug’, MRSA is resistant to antibiotics which is common in hospitals

How to slow the development of resistance in bacteria:

1) Antibiotics should not be given for viral or non-serious infections
2) Specific antibiotics should be given for specific bacteria
3) Patients should complete their course of antibiotics - if they do not some bacteria may
survive and mutate to become antibiotic resistant
4) Antibiotics should be used less in agriculture

• To avoid transmission, maintain good hygiene, wash hands regularly and sterilise clothes
(especially in hospitals)
• The development of new antibiotics is costly and slow, so unlikely to keep up with the
emergence of new strains
 Classification of living things

• Classification is the organisation of living organisms into groups according to similarities

• Traditionally, living things have been classified into groups depending on their structure and
characteristics in a system designed by Carl Linnaeus in the 1700s- this is known as the
Linnaean system
• The binomial system uses Latin so can be used worldwide King Kingdom
and overcome language barriers Philip Phylum
• Living things were divided into (plus mnemonic): Came Class
Remember when writing scientific names, use the order of Over Order
Genus with a capital and lowercase for species For Family
Good Genus
• As evidence of the internal structures of organisms soup species
because more developed due to improvements in microscopes
and the understanding of biochemical processes progressed, new models of classification were
proposed
• This found some species were more distantly rented than first though, so Carl Woese added
three large groups above called domains above kingdoms:
Archaea: primitive bacteria which live in extreme environments such as hot springs
Bacteria: true bacteria (despite having similar features to archaea)
Eukaryota: organisms who have a nucleus enclosed in a membrane, including the kingdoms
protists, fungi, plants and animal
• Models such as evolutionary trees allow us to suggest relationships bet ween organisms
• Evolutionary trees show how closely related organisms are by using classification data and
fossils for extinct species