Activity 2.

23 Check your notes for Topic 2:

Genes and health
Purpose
To help you get your notes in order at the end of this topic.
Topic 2 summary
Make sure your notes cover the following points. The points are listed in the order they
appear within the topic. All the points are covered in the textbook but where there is
supporting information within activities this is indicated.
There are suggestions on making notes and on revision in the Exam/coursework support.
You should know the following points:
1 The properties of gas exchange surfaces (large surface area to volume ratio, thickness
of surface, difference in concentration) and how the structure of the lung provides a large
surface area to volume ratio. (Activities 2.3, 2.4 and 2.5) (Checkpoint question 2.1)
- Large Surface Area
- Numerous capillaries
- Thin walls
2 The basic structure of an amino acid (structures of specific amino acids are not
required). (Activity 2.6)

Amino Acid
3 The formation of polypeptides and proteins as amino acid monomers linked by peptide
bonds in condensation reactions. (Activity 2.6)
- Polypeptides are numerous amino acids linked together. Water is removed and the C and
N groups link together forming a peptide bond.

 4 The significance of a proteins primary structure in determining its three-dimensional

structure and properties as a globular or fibrous protein. (Activity2.6) (Checkpoint
question 2.2)
-

The primary structure determines the final 3D structure because it determines the
arrangement of interactions which result in twisting and folding in the final 3D
structure. This then determines the shape.

5 The mechanism of action and specificity of enzymes in terms of their threedimensional structure; the understanding that enzymes are biological catalysts that reduce
activation energy. (Checkpoint questions 2.3 and 2.4)
-

Enzymes are specific in their 3D structure because they will only work when their
active sites are occupied by the right substrate. This lock and key mechanism
ensures specificity. Enzymes reduce the energy required for a reaction to take
place.

6 The structure of the unit membrane (fluid mosaic model) and how its structure
depends on the properties of the phospholipids.
- The fluid mosaic model contains proteins, cholesterol, glycoprotein (proteins molecules
with a polysaccharide attached) and glycolipids (lipid molecules with polysaccharides
attached)
7 How the effect of temperature on membrane structure can be investigated practically.
(Activity 2.7)
- This involves boiling beetroot and discovering how much colouration it loses. Because its
known that heating the structure breaks bonds and makes it release pigmentation
8 The meaning of osmosis in terms of the diffusion of free water molecules through a
partially permeable membrane (consideration of water potential is not required). (Activity
2.8)
- Osmosis is the movement of water from a solution with a lower concentration of solute to
a solution with a higher concentration of solute through a partially permeable membrane.
9 Passive transport (diffusion, facilitated diffusion), active transport including the role
of ATP, endocytosis and exocytosis and the involvement of carrier and channel proteins in
membrane transport. (Activity 2.8)

- Diffusion is the movement of molecules of molecules or ions from an area of their high
concentration to an area of their low concentration.
- Facilitaded diffusion where diffusion is aided by channel proteins
- ATP rovides energy for active transport. This is because it is against the concentration
gradient.
- Endocytosis is when subastances are carried into a cell by the material to b transported.
- Exocytosis is the release of substances,usually proteins of polysaccharides from the cell
as vesicles by fusion with the cell membrane.
10 How the expression of the faulty cystic fibrosis allele impairs the functioning of the
gaseous exchange, digestive and reproductive systems. (Activity 2.9) (Checkpoint
question 2.5)
- Cystic fibrosis causes thick mucus which cant be expelled causing an excess. The mucus
will block the pancreatic duct meaning some important enzymes which aid in digestion are
not available, causing diarrhea and malnutrition.
- in women a mucus plug develops in the cervix. This stops sperm from reaching the egg.
- in males, the vas deferens is absent or it is block so sperm cannot leave the testes.
11 How enzyme concentrations and substrate concentrations can affect the rates of
reactions and how the effect of enzyme concentration on reaction rate can be investigated
practically. (Activity 2.10)
- Increasing enzymes concentration will increase the amount of successful enzyme
substrate collisions so increase the rate (substrate always in excess)
- substrate concentration increases rate of reaction to a point where all enzyme active
sites are occupied. This is enzyme limiting. Increasing substrate concentration produces
more successful enzyme-substrate collisions so the rate increases.
12 The basic structure of mononucleotides (a phosphate group, deoxyribose or ribose and
a base, i.e. thymine/uracil, cytosine, adenine and guanine). (Activities 2.11 and 2.13)
- Mononucleotides are made up of a phosphate group, a nitrogenous base and a ribose sugar
13 The structures of DNA and RNA as polynucleotides composed of mononucleotides
linked in condensation reactions. (Activities 2.11 and 2.13)
- DNA and RNA are comprised of many nucleotides linked together. The nucleotides are
specific as adenine will only link with thymine/urasil. Cytosine will only link with guanine.
- DNA has de-oxyribose sugars but RNA has ribose sugars.

14 How complementary base pairing and hydrogen bonding are involved in the formation of
the DNA double helix. (Activities 2.11 and 2.13)
- The strands of DNA are held together by hydrogen bonds. The key to base pairing is
the structure of the bases and the bonding between them.
bases A and G have two rings while C and T have 1 ring. The bases pair so that there
are three rings forming each rung of the DNA molecule, making the molecule a
uniform with along its whole length. The shape and chemical structure of the base
detects how many bonds each can form and this determins the pairing of A with T
( two hydrogen bonds) and C with G ( three hydrogen bonds).
15 The nature of the genetic code (triplet code, non-overlapping and degenerate); the
understanding that a gene is a sequence of bases on a DNA molecule coding for a sequence
of amino acids in a polypeptide chain. (Activities 2.13 and 2.14)
- DNA carries a triplet code. Each group of 3 bases codes for an amino acid and triplet do
not overlap there are 64 3 letter combinations possible.
- it is degenerate meaning one or more codons may code for the same protein/amino acid.
16 The process of protein synthesis transcription and translation, including the role of
the template (antisense) DNA strand in transcription, codons on messenger RNA,
anticodons on transfer RNAs, ribosomes and the role of start and stop codons.
(Activities 2.13 and 2.14)
17 The process of semi-conservative DNA replication including the role of DNA
polymerase. (Activity 2.15)
- Semi conservative DNA replication means that when the two new DNA molecules are
formed during DNA replication, each resulting daughter molecule consists of one side from
the original parent molecule and a new side synthesized from the parent side which served
as a template.
18 How errors in DNA replication can give rise to mutations and how cystic fibrosis
results from one of a number of possible gene mutations.
- Errors in DNA can result in production of a faulty protein or no protein at all. But
because the fault is only in the mRNA, it would only affect the proteins produced from this
one mRNA in this one cell, on this one occasion. When replicating an incorrect base may slip
into place, so a new strand is now being formed all together. This is a mutation.
19 The meanings of the terms genotype, phenotype, recessive, dominant, homozygote and
heterozygote. (Activities 2.16 and 2.17) (Checkpoint question 2.6)

- Genotype the alleles that a person has

- Phenotype the observable effect or characteristic caused by a genotype
- recessive only affects the phenotype of the homozygote
- dominant affects the phenotype of both the homozygote and the heterozygote.
20 Monohybrid inheritance including the interpretation of pedigree diagrams. (Activities
2.16 and 2.17)
21 The principles of gene therapy; the distinction between somatic and germ line therapy.
(Activity 2.18)
gene therapy
- Normal alleles of the gene are inserted into target cells, either suing a genetically
modified virus to infect the target cell or liposomes
- normal form of gene is transcribed and translated
- functioning protein is produced in the target cells.
With germ line therapy it altering the sperm or egg cells, but concerns about possible
effects in future generations when the new gene is inherited hinder progress in that field
but somatic therapy involves using loposomes or viruses, basically altering the cells in the
body
22 How gel electrophoresis can be used to separate DNA fragments of different lengths.
(Activity 2.19 and 2.20)
- gel electrophoresis is used to separate fragments according to size. They fragments are
put in a medium in which both DNA molecules can move. An electric filed is fed into the gel
and the DNA fragments migrate in the field according to their overall charge and size.
This is analyzed to determine if a genetic disorder is present.
23 How the genetic profiles produced by gel electrophoresis can be used in genetic
screening using gene probes. (Activity 2.19 and 2.20)
- the probes are made of radioactive phosphorus, making the DNA fragment radioactive or
binding fluorescent molecules to them
- large quantities of the probe are added to the filter and allowed time to bind with
complementary sequences before any unbound probe is washed away.
- Filter is dried and placed next to x-ray film. Any radioactive probe that is present will
expose or blacken film showing that the DNA sequence being tested for is present.

24 The uses of genetic screening in the identification of carriers, prenatal testing

(amniocentesis and chorionic villus sampling) and embryo testing. (Activity 2.21)
- A sample of blood or cells is take from the inside of the mouth and can be used to detect
abnormal alleles in people without the disease who are heterozygous. Where there has
been a history of cystic fibrosis in a family this can be of value in assessing the probability
of having a child with the genetic disease.
- amniocentisis involves extracting amniotic fluid from the womb using an injection.
- chronic villus sampling involves exacting cells from the placenta through the vagina. Both
carry a small risk of miscarriage.
25 The social, ethical, moral and cultural issues related to genetic screening.
(Activity 2.21) (Checkpoint question 2.7)
- Abortions may result in discovering the disease is present and some cultures think
abortion is wrong
- parents may not want to bring in children to suffer
- discovering a disease can potentially ruin relationships, careers and lives altogether