B6 inheritance, variation and evolution

DNA

- DNA = deoxyribonucleic acid - its the chemical that all genetic material in a cell is made up
of - it contains coded information (all the instructions to put an organism together + make it
work) - DNA is a polymer made up of two strands coiled together in the shape of a double
helix - it determines what inherited characteristics you have - its found in the nucleus of
animal and plant cells in really long structures called chromosomes - chromosomes come in
pairs
- dna determines what proteins cells produce e.g hemoglobin, keratin
- each strand of dna contains several smaller repeating units of monomers called nucleotides
- each nucleotide is made up of 3 parts - a phosphate, a sugar and a base
- on each nucleotide the sugar and phosphate are the same but will have a different base -
the 4 bases are Adenine, Thymine, Cytosine and Guanine - so there are overall 4 different
nucleotides that make up dna - each nucleotide comes together forming one long
chain

- a gene is a small section found on a chromosome

- each gene tells cells to make a specific sequence of amino acids (they tell cells what order
to put amino acids in) - which together make a specific protein
- only 20 amino acids are used in each sequence, but can make thousands of different
proteins
- every organism has a genome - a genome is the entire set of genetic material in an organism
- scientists have worked out the human genome - this helps scientists identify which genes
are linked to which types of disease + by knowing which genes are linked to inherited diseases
it allows
-

reproduction

Sextual reproduction relies on the combination of female and male gametes (the egg and
sperm) = fertilization
Each gamete has half of the dna of a human cell (they have 23 chromosomes each and when
com
meiosis

X and Y chromosomes

genetic diagrams

Polydactyly is a condition where a baby is born with extra fingers or toes, it does not cause
any other problems and is because of a dominant allele in a heterozygous individual
We can use genetic diagrams to find out the probability of the parents having children with
different phenotypes
In some cases the parent doesn't have the disorder but if they have children there’s a chance
they could get e.g someone with a heterozygous gene in which one is dominant and the other
is recessive, we call these people carriers because the offspring could get cystic fibrosis =
lots of sticky mucus being released different parts of the body e.g the lung airways and the
pancreas
People with cystic fibrosis will have two recessive cystic fibrosis alleles (ff) and are
homozygous
People who don't have cystic fibrosis will have the dominant alleles (FF) and are homozygous
People with a dominant and recessive allele (Ff) will be heterozygous and are carriers

inherited disorders

Polydactyly is a condition where a baby is born with extra fingers or toes, it does not cause
any other problems and is because of a dominant allele in a heterozygous individual
We can use genetic diagrams to find out the probability of the parents having children with
different phenotypes
In some cases the parent doesn't have the disorder but if they have children there’s a chance
they could get e.g someone with a heterozygous gene in which one is dominant and the other
is recessive, we call these people carriers because the offspring could get cystic fibrosis =
lots of sticky mucus being released different parts of the body e.g the lung airways and the
pancreas
People with cystic fibrosis will have two recessive cystic fibrosis alleles (ff) and are
homozygous
People who don't have cystic fibrosis will have the dominant alleles (FF) and are homozygous
People with a dominant and recessive allele (Ff) will be heterozygous and are carriers

variation
The differences in the biology of each individual in a population is called variation
Variation is due to each person having a different phenotype
A phenotype is the characteristics you can see based on the genes of a person and their
environment
Genes code for proteins
Genome = all genes combine to form an organism
Everyone besides identical twins has a unique genome (different combinations of proteins
inside them)
In terms of our environment, if the identical twins both have a gene for being tall one of them
might stay short because they don’t sleep or eat much
Most of our characteristics are determined by the interaction of our genes and environment
Genetic variation happens because of mutation, which is a change in our DNA code
Dna codes for specific proteins, mutations mean a change in the DNA code
In some cases mutation will change the protein the dna codes for = the phenotype changes
slightly (this can be a good or bad thing as it could give you resistance to a disease or the
ability to run faster)
Most of the time mutation doesn’t have an effect on proteins so doesn’t change the
phenotype of an organism at all
The beneficial traits an organism receives means they are more likely to survive and then
reproduce to pass on their genes to the next generation (the theory of evolution)
Charles Darwin's theory of evolution states : 👏the inheritance of certain characteristics in a
population, over multiple generations could lead to a change in the whole species or the
development of a whole new organism
Given the time the phenotypes of two different organisms within a population will become so
different the offspring become infertile and can no longer reproduce, this means a new
organism has been formed, as these organisms can no longer interbreed to produce fertile
offspring

evolution

- evolution theory states that = all of today's species have evolved from simple life forms that
first started to develop over 3 billion years ago
- Charles Darwin came up with a theory based on evolution = natural selection - he noticed
that organisms show wide variation in their characteristics - which we now call phenotypic
variation - he also knew organisms competed for limited resources in an ecosystem - from this
he concluded that the organisms with the most suitable characteristics for the environment
would be more successful competitors + more likely to survive - this idea is known as the
survival of the fittest
- the successful organisms that survive are more likely to reproduce and pass on the genes
for the characteristics that allowed them to survive to their offspring - while organisms that
aren't as well adapted will be less likely to survive and reproduce - so its also unlikely they will
pass on their genes to the next generation
- this means overtime the beneficial characteristics become more common in the population,
and the species evolves (undergoes changes)
- Darwin's theory wasn't perfect, this was due to the lack of relevant scientific knowledge
available at the time - this meant he couldn't give a detailed explanation as to why new
characteristics appeared or how individual organisms passed on beneficial adaptions to their
offspring
- despite this the discovery of genetics supported Darwin's idea - providing an explanation on
how organisms born with beneficial characteristics can pass the on through their gens +
showed that it is genetic variants that for different phenotypes that are suited to the
environment
- other evidence was also found through looking at fossils from different ages (the fossil
record - a collection of all preserved remains of past life on earth) - you can see how the
changes in organisms developed slowly over time e.g it was recently discovered that bacteria
are able to evolve to become resistant to antibiotics, which further supported the theory of
evolution by natural selection - this theory is now widely accepted
- speciation = the development of a new species - over a long period of time the phenotype
of organisms so much because of natural selection a completely new species is formed
- speciation happens populations of the same species change enough to become
reproductively isolated - meaning they can't interbreed to produce fertile offspring
- extinction = when no individuals of a species remain alive - many organisms within the fossil
record don't exist anymore and so are considered extinct
- species become extinct because of; the environment changes too quickly e.g the
destruction of a habitat means it changes for the organisms living there, a new predator is
introduced and kills all of the species e.g humans hunting, a new disease may kill them, they
can't compete with another new species for food, or a catastrophic event kills them e.g a
volcanic eruption or a collision with an asteroid
for example dodos are now extinct - humans hunted them and introduced other animals
which ate their eggs
selective breeding

- selective breeding is when humans artificially select plants or animals and breed them
together so that the genes for particular characteristics remain in the population - organisms
are selectively bred to develop features which are considered useful or attractive - animals
which produce more milk or meat, crops with disease resistance, dogs with less aggression
(good temperament), decorative plants with big or unusual flowers

- the process for selective breeding = select the animals or plants which have your desired
characteristics - breed them together - select the best of the offspring, and breed them
together - continue this process over several generations, and the desirable trait will become
stronger and stronger, until all the offspring have the characteristic

- in agriculture (farming) - selective breeding can be used to improve yields e.g increasing
meat yields by breeding cows and bulls together with the best characteristics for producing
meat such as large size - after several generations the farmer will get cows with very high
meat yield
- people have been selective breeding for thousands of years - its how we got edible crops
from wild plants and how we domesticated animals like cows and dogs

- problems with selective breeding = it reduces the gene pool - which is the number of
different alleles (types of gene) in a population, this is due to the fact that the farmer keeps
breeding what they consider the 'best' plants or animals - which are closely related - this is
known as interbreeding
- interbreeding can cause health problems as there is more chance of organisms inheriting
harmful genetic defects when the gene pool is limited - e.g pugs often have breathing
problems - there can also be serious problems if a new disease appears, due to the lack of
genetic variation in the population if one organism is killed by the disease the other closely
related organisms are likely to succomb to it as well
- Genes and Alleles:
Individuals inherit two alleles for each gene (one from each parent).
Recessive alleles only cause disorders when both copies are defective (homozygous).
Many people carry one normal and one defective allele (they are carriers) – but show no
symptoms.
Disease occurs if a child inherits two defective alleles (from both parents).
Inbreeding (e.g., between relatives):
Relatives share more of the same alleles, including rare harmful ones.
Offspring have a higher chance of receiving the same recessive allele from both parents.
Increased Homozygosity:
Inbreeding increases homozygosity (two identical alleles).
This leads to greater expression of recessive genetic disorders.

genetic engineering

fossils

- fossils are the remains of organisms that lived thousands of years ago found in rocks - they
provide evidence of evolution + the incremental changes (small changes gradually made over
time) that led to the development of an organism
- but fossils don't provide evidence as to where the first living organism came from
- there are hypothesis as to how life first came to be = some believe the first life forms came
into existence in a primordial swamp / under water on early earth - this swamp was belived to
contain various organic molecules such as amino acids and nucleotides which where formed
from chemical reactions - these organic molecules built up in the earths water bodies and
came before the first living organisms
- some believe simple organic molecules were bought to earth on comets - these became
more complex organic molecules, which eventually formed very simple life forms
- these hypothesis can't be disproved or supported because there is a lack of good valid
evidence: many early life forms were soft bodied, and soft tissue tends to decay completely,
this means the fossil record in incomplete. Fossils that did form millions of years ago may have
been destroyed by geological activity e.g the movement of tectonic plates may have crushed
fossils formed by rocks

- there are 3 ways a fossil can form:

- gradual replacement from minerals (hard tissues like teeth, bones and shells that don't
decay easily can last a long time when buried, and are eventually replaced by minerals as they
decay forming rock-like substances shaped like the original part, the surrounding sediments
turn to rock but the fossil stays distinct),
- casts and impressions (casts = when an organism is buried in a sort material such as clay -
the material hardens around it and the organism decays leaving the cast - plants roots can be
preserved in casts - we call these rootlet traces - animal's burrows can also be preserved in
casts, impressions = when an organism presses into a soft material when its soft - leaving an
impression when it hardens e.g a footprint),
preservation in places when no decay can occur (in amber - a clear yellow stone made from
fossilised resin - and tar pits there is no oxygen or moisture for decay to take place as these
conditions are not suitable for microbes to survive + in glaciers the temperature is too low for
decay microbes to work + peat bogs are too acid)

antibiotic resistant bacteria

- the discovery of antibiotics e.g penicillin meant that bacterial infections that had once been
fatal could be cured - however they were not a permanent solution

- like all organisms, bacteria sometimes undergo random mutations (changes) in their DNA -
leading to changes in the bacteria's characteristics such as being less resistant to a particular
antibiotic - this can lead to antibiotic-resistant strains forming as the gene for antibiotic
resistance becomes more common in a population of bacteria due to natural selection
(bacteria immune are more likely to pass on their genes and reproduce)

- additionally bacteria rapidly reproduce allowing the population to quickly evolve - the ability
for a bacterium to resist antibiotics allows them to survive, even in a host who is being treated
to cure the infection - this means it will live longer and reproduce multiple times - this
increases the population size of the antibiotic resistant strain

- for people infected with antibiotic resistant bacteria, they are not immune to the new strain
so there is no immediate treatment - so the new infection easily spreads between people

- a superbug = a microorganism like bacteria and fungi that are resistant to most standard
antibiotics

- drug companies can come up with new antibiotics that are effective on antibiotic resistant
bacteria but superbugs, who are resistant to most known antibiotics are becoming more
common

- MRSA is a common superbug which is very difficult to get rid of, it often affects people in
hospitals and can be fatal if it enters the bloodstream

- the more often antibiotics are used the larger the antibiotic resistance becomes - this is
because the misuse or overuse of antibiotics creates conditions in which naturally resistant
bacteria can thrive and reproduce - and so increase in numbers - which is why its important
for doctors to only prescribe antibiotics when they really need to
- the reason why antibiotic resistance is becoming more common is because of the
inappropriate or overuse of antibiotics = doctors prescribing patients with antibiotics for non
serious conditions or infections caused by viruses (viruses can't be killed by antibiotics),
patients not finishing their full antibiotics course meaning there are still infectious bacteria left
in their body to create an antibiotic strain through mutating, farmers giving antibiotics to
animals to prevent them from becoming ill + grow faster leads to the development of antibiotic
resistant bacteria in animals - which can spread to humans (e.g during meat preparation and
consumption)

- preventing antibiotic resistance = patients taking their full antibiotics course (this makes sure
all bacteria are destroyed, so there are non left to mutate and develop antibiotic resistant
strains), due to the increased concern about the overuse of antibiotics in agriculture some
countries have decided to restrict their use, antibiotics should not be shared between people
- the antibiotic was prescribed for one person tailored to their specific infection and bacterial
type, improving diagnostic testing (the methods used to identify and diagnose diseases or
medical conditions) so that antibiotics can be prescribed appropriately, preparing and storing
food properly - this prevents the spread of food born illness which may need antibiotic
treatment

the increase in antibiotic resistance has encouraged drug companies to work on the
development of new antibiotics that are effective against resistant strains, however the rate of
development is slow - this means it is unlikely they will be able to keep up with demand for
new drugs as more antibiotic resistant strains develop and spread + the research and
development needed can be expensive

classification

- in the 1700s Carl Linnaeus proposed a system in order to classify organisms based on their
characteristics and the structures that make them up
- the Linnaeus system is divided into kingdoms and then smaller subgroups - phylum, class,
order, family, genus, species
- as knowledge of biochemical processes taking place inside organisms developed +
microscopes improved - allowing us to find out more about internal structures within
organisms - scientists created new models of classification
- in 1990 Carl Woese proposed the 3 domain system using evidence from new chemical
analysis techniques e.g RNA sequence analysis - he found that in some cases the species
once seen as closely related in traditional classification systems were not as closely related as
initially thought
- the 3 domain system - Archaea (primitive bacteria - often found in extreme places such as
hot springs and salt lakes) - Bacteria (true bacteria such as E coli and Staphylococcus, they
look similar to Archaea but there are lots of biochemical differences between them) -
Eukaryota (a broad range of organisms including plants, fungi, animals and protists) -
kingdom - phylum - class - order - family - genus - species
- organisms are named according to the binomial system - every organism is given a two part
latin name - the first part is the genus the organism belongs to (this gives you information on
an organisms ancestry), the second part is the species - humans are known as homo sapiens,
homo is the genus, sapiens is the species
- the binomial system is used all over the world - this means scientists in different countries
who speak different languages avoid confusion as particular species are refered to with the
same name
- evolutionary trees show how scientists think different species are related to each other -
they include common ancestors + relationships between species
- the more recent a common ancestor the more closely related the two species + the more
characteristics they are likely to share
- scientists use lots of different types of data to work out evolutionary trees - for living
organisms they use current classification data e.g DNA analysis and structural similarities
(similarities in the shape, arrangement, and folding patterns of DNA molecules), for extinct
species scientists use information from the fossil record
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