6.

Surface area to volume ratio: the amount of surface area per unit volume of an
object or collection of objects.
The higher the SA: V ratio, the more effective the process of diffusion.
The respiratory system provides a large surface area to volume ratio to ensure
efficient gas exchange.
Adaptation of lungs for exchange:
1. Large surface area- for molecules to diffuse through. This increases rate
of diffusion (alveoli)
2. Permeable barrier- for oxygen and carbon dioxide to be easily diffused
3. Thin barrier (flattened epithelial cells)- which reduces diffusion distance
(alveoli, capillary wall is one cell thick)
4. Maintain steep concentration gradient- having fresh supply of
molecules to keep concentration high and removal of required
molecules to keep concentration low
Ventilation:

INHALING (INSPIRATION) EXHALING (EXPIRATION)

 Diaphragm contracts and flattens
 External intercostals muscles contract to
raise ribs
 Volume of chest cavity increases
 Pressure in chest cavity drops below
atmospheric pressure
 Air moves into lungs
 An active process- requires energy
 Diaphragm relaxes
 External intercostals muscles relax and
ribs fall
 Volume of chest cavity decreases
 Pressure in chest cavity increases
 Air moves out of lungs
 A passive process- doesn’t require
energy

5.

Beetroot experiment: the higher the temperature, the more colour leaked out
from the beetroot and hence the more damage is done to the cell membrane.
The fatty acid tails of the phospholipid bilayer begin to denature at high temps
and cholesterol loses its structure, meaning the bilayer becomes more fluid
allowing more movement. This affects permeability of cell which allows foreign
molecules to enter.
2.
The fluid mosaic model describes the plasma membrane of animal cells. It is
mosaic is structure because it is embedded with proteins of all different sizes.
It is considered fluid because it doesn’t have an entirely rigid structure.

Component Structure/Description Function

Phospholipid -hydrophilic phosphate -forms bilayer
heads -impermeable barrier
-hydrophobic fatty acid
chains(x2)
Cholesterol -type of lipid -stability and strength
-small -holds phospholipids
together.
Glycoprotein -insoluble protein with -cell signalling and cell
carbohydrate chain recognition.
attached.
Glycolipids -insoluble phospholipid -cell signalling and cell
with carbohydrate chain recognition.
attached.
Intrinsic Channel -completely span the -Passive transport
Proteins Proteins membrane. (long)
Carrier -completely span -active transport
Proteins membrane -also passives 9takes
-selective charged particles
through.
Extrinsic Proteins -only found on inner or -allow Glycolipids to
outer surface. form.
-cell recognition.
-cell adhesion.
Carbohydrate chain C-H-O -cell recognition
3.

Osmosis: the movement of water molecules from an area where they are in
high concentration to an area of lower concentration through a partially
permeable membrane.
Water molecules form hydrogen bonds with solutes, reducing the movement
of water molecules.
-Through phospholipid bilayer.
-Passive, no energy required.

4.
Passive transport: a kind of transport by which ions or molecules move along a
concentration gradient (i.e. from high to low conc.). No energy is required.

Diffusion: movement of molecules or ions from an area of their high

concentration to an area of their low concentration.

Diffusion -hydrophobic or small, uncharged

molecules.
-through phospholipid bilayer.
Facilitated Diffusion -hydrophilic molecules or ions.
-through channel/carrier proteins.
Osmosis --through phospholipid bilayer.

Small uncharged molecules e.g. oxygen and CO2 can diffuse across the cell
membrane.

Channel proteins span the membrane and have a specific shape to transport
specific particles.

Carrier proteins bind with the molecule or ion, change shape and transport the
particles across the membrane.

Active transport: a kind of transport wherein ions or molecules move against a

concentration gradient (low to high conc.) Hence, this process will require
expenditure of energy, and the assistance of a carrier protein.
ATP supplies energy to change the shape of a carrier protein molecule when
substances are moved against the conc. gradient.

Endocytosis -bulk transport of substances into a

cell by the creation of a vesicle.
Exocytosis -bulk transport of substances out of
the cell.
-vesicles fuse with the cell surface
membrane and the contents are
released.

10.
A mononucleotide is made up of a 5-carbon sugar
(either ribose or deoxyribose), a phosphate group
and a base (adenine, cytosine, guanine, thymine or
uracil).

DNA is a type of nucleic acid called deoxyribonucleic

acid. It is a long chain molecule made up of
nucleotides.

Nucleotides link together by

condensation reactions between the
sugar of one and the phosphate
group of the other.

A and T pair forming 2 hydrogen

bonds.
C and G pair forming 3 hydrogen
bonds.

Purines: double ring – A and G.

Pyramidines: single ring – C and T
RNA (ribonucleic acid) is made up of a single strand of nucleotides. In RNA the
pentose sugar is called ribose and the base uracil replaces the base thymine.
There are 3 different types of RNA:
 mRNA (messenger RNA) – it acts as a copy of a gene by having a
sequence complementary to one strand of DNA and identical to the
other strand. It carries the info stored in the DNA in the nucleus to the
cytoplasm where the ribosomes can make it into a protein.
 tRNA (transfer RNA) – a small RNA that has a very specific secondary and
tertiary structure such that it can bind an amino acid at one end, and an
mRNA at the other end.
 rRNA (ribosomal RNA) – one of the structural components of the
ribosome. It is the site of catalysis in peptide bond formation.

14.
TRANSCRIPTION:

i. Occurs in the nucleus, catalysed by RNA polymerase.

ii. DNA helix unwinds (DNA helicase), h-bonds break/weaken and free-
floating RNA nucleotides pair with the exposed bases on the template
(antisense) strand of DNA.
iii. 3 bases on the DNA (triplet) are transcribed into 3 bases on the RNA
(codon).
iv. The mRNA molecule formed enters the cytoplasm through a nuclear
pore.

TRANSLATION:
i. Occurs on the ribosomes of the rough endoplasmic reticulum.
ii. The beginning of the sequence is marked with a start codon.
iii. A tRNA molecule with 3 exposed bases (anticodon) pairs with a specific
codon on the mRNA.
iv. Attached to the tRNA molecule is a specific amino acid.
v. The amino acids, arranged in the order dictated by the mRNA codons,
are joined with peptide bonds to form a polypeptide.
vi. A stop codon signals the last amino acid in the polypeptide chain.
12.
The genetic code in the DNA making up the chromosomes acts as a code for
protein synthesis.
It dictates the order of the amino acids required to make the protein and the
order in which they should be bonded together.
3 bases code for 1 amino acid and these base triplets are non-overlapping.
Since RNA is constructed from four types of nucleotides, there are 64 possible
triplet sequences or codons (4x4x4). Three of these possible codons specify the
termination of the polypeptide chain. They are called "stop codons". That
leaves 61 codons to specify only 20 different amino acids. Therefore, most of
the amino acids are represented by more than one codon. The genetic code is
said to be degenerate (there is more than 1 triplet for each amino acid).

13.
A gene is a sequence of bases on a DNA molecule coding for a
sequence of amino acids in a polypeptide chain.

7.
Structure of amino acid:

The amino acid monomers join together in

a condensation reaction to form peptide
bonds.

Peptide bond: a –CO-NH- linkage forming

between the carboxyl group of one amino acid
and the amino group of another.

2 amino acids form a dipeptide:

Fibrous and Globular

Fibrous
Repetitive regular sequences of amino
acids
Actual sequences may vary slightly
between 2 examples of same protein.
Polypeptide chains form long parallel
strands.
Length of chain may vary in 2
examples of same protein.
Stable structure.
Insoluble
Support and structural functions.
e.g. collagen, keratin
Globular
Irregular amino acid sequences.
Sequence highly specific and never
varies between 2 examples of same
protein.
Polypeptide chains folded into a
spherical shape.
Length always identical in 3 examples
of same protein.
Relatively unstable structure.
Soluble
Metabolic functions.
e.g. all enzymes, some hormones
(insulin) and haemoglobin.

8.
Enzymes: Globular proteins which
speed up chemical reactions by
lowering the activation energy, without
being used up themselves.

The molecule has a specifically shaped

active site, into which a substrate fits to
form an enzyme-substrate complex.

The lock-and-key model suggested and

exact match between the shapes of the
substrate and active site. The induced
fit model describes the active site
moulding around the substrate once it is place.

Intracellular reactions: occurring or being inside a cell.

Extracellular reactions: reactions occurring outside a cell.

9.
Increase in temperature (increase in kinetic energy to molecules), increases
likelihood of collisions between enzyme and substrate molecule. Hence rate of
reaction increases. Beyond the optimum temperature, the increased vibration
of the atoms in the protein molecule break the bonds maintaining the tertiary
structure. The active site is denatured.

pH changes around the enzyme’s optimum pH, altering the charge distribution
in the active sie, reducing the compatibility of enzyme and substrate. Tertiary
structure bonds are affected and extreme changes will denature the enzyme.

An increase in either substrate or enzyme conc will increase the rate of

reaction until the other acts as a limiting factor.

11.
DNA replication must occur before a cell divides
to ensure that daughter cells receive a copy of
the genetic code.

REPLICATION:

i. DNA double helix unwinds (DNA helicase).

ii. Hydrogen bonds between the base pairs
break.
iii. Free DNA nucleotides line up along side each strand.
iv. Hydrogen bonds form between complementary bases.
v. DNA polymerase links adjacent nucleotides.
vi. 2 identical DNA double helices are formed by this semi-conservative
replication.
The Meselson-Stahl experiment showed that
DNA replicates by a semi-conservative
mechanism. The double helix separates so that
each old strand serves as a template for a new
strand. Two new double helices result, each
containing one new strand and one old strand.
15.
Sometimes, the DNA does not replicate properly – an incorrect base may slip
into place = a gene mutation.
If it occurs in the sperm or ovum, which form a zygote, every cell in the new
organism will carry the mutation. If it occurs in non-coding DNA, it will have no
effect. In a gene, it will cause an error in the mRNA and an incorrect amino acid
may be included in the polypeptide chain causing a genetic disorder.
A number of mutations can affect the gene coding for the CFTR protein
channels, which allow chloride ions to pass through the membrane.
Most common mutation: deletion of 3 nucleotides, resulting in the loss of the
508th amino acid in the protein. The altered protein may not open or may
reduce the flow of chloride ions through the channel.

16.
Human cells contain 23 pairs of homologous chromosomes. At a locus on each
of the pair is found a gene for a particular characteristic.

Gene: a distinct sequence of nucleotides forming part of a chromosome. A

section of DNA.
Allele: one of two or more alternative forms of a gene that arise by mutation
and are found at the same place on a chromosome.
Locus: position on the chromosome.
Genotype: alleles that a person has e.g. Ff
Phenotype: observable effect e.g. blue eyes
Dominant: only needs one copy of the gene to have the phenotype (F)
Recessive: needs two copies of the gene to have phenotype (f)
Heterozygote: an individual having two different alleles of a particular gene or
genes, and so giving rise to varying offspring.
Homozygote: an individual having two identical alleles of a particular gene or
genes and so breeding true for the corresponding characteristic.
Carrier: has the allele but isn’t observable.
Monohybrid inheritance: controlled by one gene, not effected by environment
or social factors.
In humans, recessive mutations of single genes result in:
o Cystic Fibrosis: mucus which is too viscous.
o Thalassaemia: abnormal haemoglobin formation.
o Albinism: lack of pigment production.

Gregor Mendel initiated the study of genetics using the garden pea. He
established patterns of inheritance of a number of phenotypes incl. height and
the morphology of seeds.

17.
In the respiratory system, the amount of water in the mucus must be regulated
because:
i. Too runny mucus floods the airway.
ii. Too viscous (sticky) mucus can’t be cleared by the cilia.
This is controlled by the transport of sodium and chloride ions across the
epithelial cells. Water follows the ions because of osmosis.

In CF:
o The CFTR channel is non-functional, so chloride ions cannot pass out of
the cell towards the lumen.
o The sodium ion channels are open and sodium ions are continually
absorbed from the mucus.
o Water is drawn out of the mucus by osmosis and it becomes very
viscous.

The cilia cannot move the mucus so it builds up the airway and becomes
infected.
Due to low O₂ levels in the mucus, anaerobic bacteria thrive.
WBCs invade the mucus, then die and release DNA making it even more
viscous.
Mucus blocks the bronchioles, reducing the number of ventilated alveoli. This
reduces the efficiency of gas exchange.
In the digestive system, the viscous mucus blocks the pancreatic duct
(duodenum). Enzymes are not released into the small intestine and food is
therefore not digested effectively. Undigested food cannot be absorbed and
energy is lost in the faeces (malabsorption syndrome).

The reproductive system:

o In females, a mucus plug blocks the cervix.
o In males, the vas deferens leading from the testes is either blocked or
missing.

18.
The principles of gene therapy are to alter the genotype and hence phenotype
of target cells:
o Cut out healthy gene via endonuclease and attach to vector via DNA
ligase
o Normal alleles inserted into target cell using viruses or liposomes.
o Normal form of gene transcribed and translated.
o Functioning protein produced by target cell.

USING VIRUSES:
Viral DNA for replication is deleted and replaced with normal allele of the
desired gene.
A gene promoter is required to initiate transcription and translation.
The use of viruses is a potentially efficient form of gene transfer but has been
found to produce an inflammatory response.

USING LIPOSOMES:
Normal allele is inserted into a plasmid, which is then combined with the
liposome (spherical phospholipid bilayers).
The positively charged head groups of the phospholipid combine with the DNA
(which is negatively charged) to form a liposome-DNA complex.
Patient breathes in aerosol containing the liposomes and the DNA is carried
into the target cells.
Treatment is temporary as epithelial cells are constantly lost.

Somatic therapy: altering specific body cells (somatic cells). Permitted in the
UK.
Germ line therapy: altering sperm and eggs (germ cells). It is not legal.
19.
Uses of genetic screening:
i. Identifying carriers: heterozygotes with normal phenotypes. A sample of
blood or cells taken from inside the mouth can be used to detect
abnormal alleles in people without the disease who are heterozygous.
Counselling is offered before and after testing, and parents can make
informed decisions about how to proceed.
ii. Embryo testing: a sample of cells from a developing foetus can be
analysed.
iii. amniocentesis - inserting a needle into the amniotic fluid to collect cells
that have fallen of the placenta and foetus (15-17 weeks of
pregnancy/risk of miscarriage between 0.5% and 1%).
iv. chronic villus sampling – a small sample of placental tissue is removed,
either through the wall of the abdomen or the vagina (8-12 weeks of
pregnancy/risk of miscarriage between 1-2%).
v. Pre-implantation genetic diagnosis (PIGD): used to test an embryo
created by IVF. A cell can be removed and the DNA of the cell can be
analysed to decide whether or not to place the embryo in the womb. IVF
is expensive and fairly unreliable.

20.

Ethical frameworks:
o Rights and duties – rights are social conventions built up over thousands
of years.
o Maximising the amount of good in the world – ethical approach is
known as utilitarianism.
o Making decisions for yourself – informed consent. Someone who
believes in rights and duties may say that each of us has a right to act
autonomously but also has a duty to take account of effects of our
actions on others.
o Leading a virtuous life – the good life consists of acting virtuously.

cause or lead to emotional or psychological changes. Ideas of not natural.

Whether or not a couple has kids is decided by God etc.