Topic 2 MS
Topic 2 MS
1. In the nucleus
RNA DNA
Ribose sugar Deoxyribose sugar
3. Single stranded Double stranded
Uracil Thymine
4. UAACGGCAU
5. Hydrogen bonds
10. mRNA that contains introns and exons – before it has been spliced
11. Introns removed and exons joined, and possibly rearranged, to form mRNA
14. Because DNA is too large to move out of the nucleus, so a section is copied onto mRNA
Replication Transcription
DNA polymerase RNA polymerase
15.
Single stranded Double stranded
Uracil Thymine
Double stranded DNA helix formed Single stranded mRNA formed
16.
a. TGCGTAATA
1. Introns (in pre-mRNA);
2. Removal of sections of (pre-mRNA) / splicing;
b. Introns removed’ scores 2 marks.
Reference to ‘introns present in mRNA’ disqualifies mp1 but allow ECF for mp2.
Accept for 1 mark mRNA contains only exons.
17. 1. DNA of eukaryotic cell has non-coding regions / introns within gene
Allow converse: (But) a prokaryotic cell does not have non-coding regions / introns in
DNA;
OR
pre-mRNA contains non-coding regions / introns;
19.
mRNA x 1
Translation
1. Triplet of bases that codes for an amino acid
Each codon is read in sequence, separate from the codon before and after it. Codons do
2.
not share bases
There are more possible combinations of codons than there are amino acids. Some amino
3.
acids are coded for by more than one codon
4. rRNA and proteins
6. Peptide bond
7. A polypeptide chain
Transcription
- Hydrolysis of hydrogen bonds between bases in DNA double strand
- Condensation reaction forming phosphodiester bonds from joining of RNA
nucleotides
19. - Condensation reaction to form hydrogen bonds between RNA base and DNA base
- Hydrolysis of H bonds between RNA and DNA base when mRNA detaches.
Translation
- Condensation reaction to form H bonds between anticodon and codon
- Condensation reaction to form peptide bonds between amino acids
20.
21.
22.
i.
ii.
23.
a.
b.
24.
Mistakes in replication
A nucleotide consists of a sugar molecule (either ribose in RNA or deoxyribose in
1.
DNA) attached to a phosphate group and a nitrogen-containing base.
2. Three adjacent bases
-Eukaryotic DNA is bound by the nucleus
- Prokaryotic DNA is free-floating inthe cytoplasm
3.
- Additional DNA is stored in plasmids in prokayotes
-Eurkaryotes have histones.
RNA has ribose sugar/ DNA has deoxyribose sugar
4. RNA single stranded/ DNA double stranded
RNA has uracil/ DNA has thymine
Made in the nucleus during transcription, has a codon, carries the genetic code from the
5.
DNA in the nucleus to the cytoplasm. Single stranded. Shorter than DNA
6. Mitochondria and chloroplast
17. Frame shift mutation - the reading frame changes and this results in a different protein
structure
a. The sixth base is G rather than T- substitituion
b. The second base is A instead of T- substitution
18. c. The fifth and sixth bases are inverted
d. Omission of the fourth base A- deletion
e. An additonal base, G, is added after the fifth base- insertion
19. A mutation in the gene that codes for the CFTR protein.
A channel protein that transports chloride ions out of the cells and into the mucus, so
20.
water can move into the mucus by osmosis which makes mucus watery.
globular protein made of four polypeptide chains. carries oxygen around the body. is
21.
soluble so easily transported in blood, contains haem group that binds to oxygen
A change in the sequence of DNA means that the sequence of mRNA will be different
22. and therefore the codon will change. It will bind with a different complementary anti
codon present on the tRNA molecule, which will be carrying a different amino acid.
It determines what bonds will form and how the protein will fold up in its 3D structure.
23. The 3D structure determines its properties and its properties relate to its function in the
body.
– genes code for proteins
24. -enzymes are proteins
-enzymes control our metabolic pathways
– insertion mutation means that an additional base is added to the
base sequence
-the whole DNA base sequence is shifted to the right/ frameshifted
25.
-all the codons/ amino acids after the mutation are affected
-substitution mutations could be silent/ genetic code is degenerate.
- may not affect the function of the protein.
26.
27.
28.
Inheritance
1.
a. RR
b. Purple flower
c. rr
d. White flower
e. Rr
f. Purple flower
2. Position of gene
Incomplete dominance - Both alleles influence the phenotype because they are both
3.
expressed equally
4. The characteristics of Cystic fibrosis is caused by mutation in one gene
5.
a.
R r
R RR Rr
r Rr rr
R r
b.
R RR- purple flower Rr-purple flower
r Rr-purple flower rr-white flower
R r
c. R RR- Homozygous Rr-heterozygous
dominant
r Rr-heterozygous rr-homozygous recessive
75% chance purple flower
d.
25% white flower
Purple 50%
White 50%
James and/or Margaret must be a carrier of the CF gene mutation; Polly has inherited the
6. recessive allele from one of her parents; both Polly and Wilf are CF carriers and have
passed the recessive alleles onto Frank
7.
a. No
8.
S normal haemoglobin; s sickle haemoglobin (any suitable symbols accepted).
a. Genotype of individual 6: Ss. One of her children has the disease and another is
unaffected, therefore she must be heterozygous for the condition.
b. Gametres from mother -7
Gametes S s
from
father-8 S SS Ss
S SS Ss
50%
9.
a. 50%.
If they are both heterozygous for the condition, Hh, then 3 in 4, 75%, of their children
b. will, on average, inherit the disease as the faulty allele is dominant. If one or both of them
are homozygous for the disease then all of their children will inherit the disease.
10.
Spherical seeds
Wrinkled S S
seeds
s Ss Ss
a.
s Ss Ss
Spherical.
F1 spherical seed
F1 S s
b. spherical
seed S SS Ss
s Ss ss
Ratio- 3 to 1
11.
a.
b.
12.
13.
a.
b.
Effect of CFTR in membrane
1. Transport chloride ions
2. Mutation in the gene in chromosome 7
Mutation causes a change in the sequence of amino acids and therefore bonding
(ionic/hydrogen etc) will be different resulting in a different tertiary/3D structure.
3.
Therefore protein will be not be able to function and transport chloride ions into the
mucus
4. To waft mucus away from epithelial cells which carry debris/dust and bacteria.
Increased risk of infection, more mucus accumulation in epithelial cells, reduced gas
5.
exchange
6. Epithelial sodium channel
7. When CFTR channel is open
Apical membrane is found at the top in between the epithelial cell and mucus. Basal
8.
membrane is found at the bottom inbetween the tissue fluid and epithelial cell
9. CFTR protein, ENac
10. Sodium-potassium pump, chlorine channel
When positive ions are transported across the membranes (Na+) this attracts negative
11.
ions (Cl-) which then also move across the membrane
12.
13. C
14. D
ATP is needed as sodium potassium pump requires energy to transport ions against the
15.
concentration gradient.
16. High concentration of ions in the mucus causes water to diffuse in
The CFTR channel inhibits the Na+ channels so Na+ ions cannot enter the cell. The
CFTR channel opens and Cl– ions diffuse out of the cell into the mucus. The increased
17.
concentration of Na+ and Cl– ions in the mucus results in water leaving the cell by
osmosis.
18. Increase in solute concentration in the tissue fluid causes water to diffuse out the mucus.
Na+ ions are pumped out of the cell at the basal end of the cell. Na+ ions enter the cell at
the apical end of the cell through the Na+ channels. The Na+ pump produces a high
19. concentration of Na+ ions outside the cell at the basal end. Water moves out of the cell at
the basal end. As water is lost from the cell at the basal end, water moves into the cell at
the apical end, drawing water out of the mucus
20. Mucus viscosity increases and paralyses cilia
Na+ ions are pumped out of the cell at the basal end. The CFTR channel is not
present/functioning, so is not able to regulate the Na+ channels. Na+ ions continue to
21. enter the cell at the apical end through the open Na+ channels. High concentration of Cl-
in the cell due to it being actively pumped in from Cl channel in basal membrane. Water
enters the cell by osmosis.
22.
23.
24.
a.
b.
25.
26.
Gas exchange in CF
Low pressure in the lungs is created by:
- Ribs moving up and out
1.
- Diaphragm flattens
This increases the volume thereby decreasing the pressure
2. Air moves from a high pressure (in the atmosphere) to low pressure in the lungs.
3. Alveoli
Epithelial cells form the outer surface of organisms. They also line tubes and cavities inside the body
4.
(airways and small intestine) as well as cover internal organs.
5. Epithelium tissue
6. Hold epithelial cells in position
7. To produce mucus
8. Mucus traps pathogens/ dirt/dust that enter the respiratory system. It lines the cilia.
9. Mucus is stickier and more viscous, it paralyses the cilia
Sticky mucus in people with CF means that they are more prone to infections and rate of gas exchange
10.
decreases.
Cilia wafts the mucus away from the respiratory system to the back of the throat to be coughed up or
11.
goes down to the stomach where acid in the stomach can destroy the pathogens
12. Disease causing microorganism
White blood cells attack pathogens by:
- Producing antibodies that are complementary to the antigen (protein) found on the surface of
13. pathogens
- Produces antitoxins to neutralise toxins produced by bacteria
- Engulfs pathogens (phagocytosis)
14. It allows more time for pathogens to grow and multiply thereby causing infections
15. It allows the pathogens to be destroyed in the acid of the digestive system
People with CF have sticky mucus which paralyses the cilia meaning that the cilia is unable to waft the
mucus away. The pathogens remain in the airways and cause infections. Increased mucus also
decreases oxygen availability by:
16.
- Decreasing rate of gas exchange due to increasing thickness of exchange surface and blocking
alveoli. This leads to less oxygen entering cells
Decreased oxygen creates anaerobic conditions or some harmful bacteria to thrive.
17. As an organism gets larger the surface area to volume ratio decreases.
18. Through the bloodstream
Large surface area
Dense capillary network which maintains steep concentration gradient
19.
Thin walls of the alveoli and capillaries meaning a short distance between the alveolar air and blood in
capillaries
20. Surface area, diffusion distance and concentration gradient.
Sticky mucus layer blocks the airways. Blocking of the alveoli leads to a decrease in surface area
which decreases rate of gas exchange.
21.
Also sticky mucus increases diffusion distance which decreases rate of diffusion.
A person with CF has a lower level of oxygen availability due to ineffective gas exchange. Therefore
22. less oxygen available for increased respiration that would take place when exercising. CF patients
wouldn’t have energy for muscle contraction.
23.
24.
20.
Increased diffusion distance therefore exchange of substances from duodenum to blood is less. Meaning
21.
less nutrients in the body.
22. No as CFTR also affects other places in body e.g. digestive system, reproductive system
23. Any cell in the body that isn’t a gamete
24. involves the placement of a human gene into a person's somatic cells
25. Transfer of DNA in gametes- is illegal as you are altering genetics of baby not born yet
26. It is used to carry desired gene into a host cell
27. Virus, liposome, plasmid
28. Via a nebuliser
29. Transcription then translation
CFTR gene sequence is used as template to create mRNA strand using complementary nucleotides in
nucleoplasm. mRNA strand leaves the nucleus and binds to ribosome. mRNA contains codon that is
30. complementary to anti-codon on tRNA. When codon binds with anticodon (hydrogen bonding), the
amino acids carried by tRNA binds to amino acid on adjacent tRNA molecule via peptide bond. A
sequence of amino acids are formed. This folds and forms the CFTR protein
31. The mucus will become less sticky/viscous.
Now that the CFTR protein is functional it will allow chloride ions to leave the epithelial cell and enter
32.
the mucus. Ion concentration in the mucus increases and water leaves the epithelial cell via osmosis
33.
34.
35.
36.
a.
b.
37.
a.
b.
i.
ii.
iii.
Genetic testing
1. Genetic screening is used to identify individuals with a high risk for a particular disorder
Offered to individuals with family history of genetic disorders. Couples can be tested before having a
2. child to determine probability of having child with the disorder. Allows people to make informed
decisions about whether to have children or do prenatal testing
3. Genetic testing is diagnostic in determining whether someone has a disease
In-vitro fertilisation. Used when couples have trouble conceiving. Eggs are extracted from woman and
4. sperm taken from semen sample. Gametes are fertilised in a petri dish to form a zygote which forms an
embryo.
5. FSH (follicle stimulating hormone-matures the egg) and LH (luteinising hormone-stimulates ovulation)
Done on embryos produced by IVF before they are implanted into the woman. Cells removed and DNA
6.
analysed to decide whether or not to implant embryo.
reduces chance of having a baby with a genetic disorder as only embryos without genetic disorders are
7.
implanted. avoids abortion
If embryo has allele causing disease it can be discarded which some people believe is ethically wrong. It
8. can be used to find out other characteristics leading to designer babies. False results provide incorrect
information.
9. Screening on unborn babies. offered to pregnant women with family history of genetic disease
To provide nutrients and oxygen for the embryo/fetus via the umbilical cord. Fetus can also transfer waste
10.
substances to the placenta for excretion
11. Helps protect fetus from injury, helps lungs develop, regulates body temperature.
A zygote is a single diploid cell formed after egg and sperm fertilise and combine. An embryo is formed
12.
after the zygote divides, it is an organism formed in the early development of a fetus.
A needle is inserted via the abdomen or vagina to extract placental tissue. An ultrasound is used to guide
13. the needle. Local anaesthetic is used to numb the area. DNA is then extracted from the placental tissue
and tested for faulty alleles.
A needle is inserted into the abdomen using an ultrasound to guide it. The needle extracts amniotic fluid.
14.
DNA is extracted and tested for chromosomal abnormalities.
CVS is performed earlier, it allows earlier decision to abort, the results are available sooner. However,
15. higher miscarriage risk of 1-2%, cannot detect gene problems on X chromosomes because they are
inactivated in fetal placenta cells
It is performed later (15 to 20 weeks), later decision to abort so abortion is more physically traumatic,
16.
results are not available until 2-3 weeks after test. Advantage is that it can detect neural tube defects.
17. CVS
18. CVS
Fetal cells obtained from amniotic fluid in amniocentesis but are obtained from placental cells in CVS. A
19.
needle is used in both. Amniocentesis is via abdomen and CVS either via abdomen or vagina
NIPD works by taking a sample of blood from the mother. The plasma is isolated and cell-free DNA
20.
(fetal and maternal)is extracted. This can then be tested for presence of disease causing alleles.
If mother and father both are carriers they carry the recessive allele for CF. When testing the cell free
21. DNA if a dominant allele is present this has come from the fetus not the parents as they don’t have the
disease.
22.
a.
b.
23.
24.
a.
i. A
ii. C
b.
iii. A
iv. d
18.
19.
i.
ii.
iii.
iv.
20.
a.
b.
c.
21.
Chi Squared
1. Tells us if results are significant or a due to chance and if the null hypothesis can be accepted or rejected
2. The likelihood an event will occur
3. 95%
It suggests that there is no statistical relationship and significance that exists between two sets of observed
4.
data
When looking at data that has been counted (not measured) and seeing if difference in expected and
5.
observed frequencies are significant
6.
X2 0.606
c. Df=1
Critical value 3.841 (p0.05)
d. Chi squared value is less than critical value therefore we accept the null hypothesis. Difference in results
were not statistically significant and were just due to chance.
10.
a. There is no significant difference between the coat colour in the expected and observed results.
Phenotype Observed (O) Expected (E) (O – E)2 (O – E)2 ÷ E
Agouti 34 30 16 0.5333
b. Black 35 30 25 0.8333
White 51 60 81 1.35
2 2.7166
X
DF= 2
Critical value= 5.991
c.
Chi square value did not exceed the critical value therefore we accept the null hypothesis. There is no
statistical significance in the difference between expected and observed results.
11.
There is no statistical significance in the difference between observed and expected results for the type of
a.
wing
Phenotype O E (O – E)2 (O – E)2 ÷ E
Long wings 77 80 9 0.1125
b.
Vestigial wings 23 20 9 0.45
X2 0.5625
DF=1
Critical value= 3.841
c.
Chi square value did not exceed the critical value therefore we accept the null hypothesis. There is no
statistical significance in the difference between expected and observed results.
12.
a. There is no significant difference between the observed and expected results.
Phenotype O E (O – E)2 (O – E)2 ÷ E
Yellow 140 156 256 1.641
b.
Grey 68 52 256 4.923
X2 5.564
Df=1
c. Critical value=3.841
Reject null hypothesis
13.
There is no statistical significance in the difference between observed and expected results between pea
a.
colour
b.
Green peas
Green G g
peas G GG Gg
g Gg gg
Cross was between two heterozygous peas so they both must have been green.
The ratio is 3:1 green to yellow peas
X2 7.5
DF=1
Critical value=3.841
d.
Chi squared value has exceeded the critical value therefore we can reject our null hypothesis. There is a
statistical significance for the difference between the expected and observed results of pea colour.
14.
a. no significant difference between the observed and expected results.
b. 9:3:3:1
Phenotype O E (O – E)2 (O – E)2 ÷ E
Purple,long 416 321.75 8883.0625 27.609
Purple, round 24 107.25 6930.5625 64.621
c.
Red,long 27 107.25 6440.0625 60.047
Red,round 105 35.75 4795.5625 134.142
2 286.419
X
DF=3
d. Critical value=7.815
Reject null hypothesis, there is a significant difference between observed and expected.
15.
a. No significant difference between the observed and expected results
b. 9:3:3:1
Phenotype O E (O – E)2 (O – E)2 ÷ E
Purple,smooth 216 214.313 2.845969 0.013
Purple,shrunken 79 71.438 57.183844 0.800
c.
Yellow,smooth 65 71.438 41.447844 0.580
Yellow,shrunken 21 23.813 7.912969 0.332
X2 1.725
Df=3
d. Critical value=7.815
Accept null hypothesis.