Teaching block 2 [1] Flashcards
(119 cards)
genes continued
Mendelian genetics
- Named after Gregor Mendel (1822-1884) - An Austrian monk
- a biological theory of inheritance that describes how traits are passed down through generations
What did Mendel do?
Mendel carried out breeding experiments on the garden pea, because:
- many easily recognisable, distict forms or varieties (34 varieties)
- The flowers are normally self fertilised but it is possible to remove the stamens from a flower, before they are mature + to pollinate the stigma with pollen from a different plant
- the plant resulting from cross fertilisation are fully viable + fertile
- The plants are easy to cultivate [prepare]
- Has a reasonably short life cycle (1 year)
Genes v alleles
Genotype v phenotype
Genes - a specific sequence of DNA bases that codes for a particular protein [represented by pairs of latters [Ff]
Allele - an allele is one of these pairs of letters [F + f = alleles] allele = a different version of a gene
Genotype - A description of the genes present in an organisms eg AA, Aa, aa
Phenotype - The acc characteristic resulting from the genotype [eg: eye colour]
Dominant v Recessive alleles
Difference between TT / tt + Tt
Homozygous? Heterozygous?
Dominant - Capital [T] = will always be expressed
Recessive - lowercase [t] = will only be expressed if they inherit two copies of the allele
TT or tt = homozygous dominant or homozygous recessive [2 dominant or 2 recessive alleles]
Tt = heterozygous [ a dominant + a recessive allele]
Monohybrid cross
- Involve a single characteristic controlled by a single gene with 2 alleles
- need to know ratios + percentages of F1 + F2 phenoypes + genotypes based on drawed cross
Pleiotropism?
EG?
Pleiotropism - where a gene has more than one phenotypic effect (that appear to be unrelated)
- a single gene influencing multiple phenotypic traits
EG: cystic fibrosis - caused by 1 recessive gene
Cystic fibrosis
Cystic fibrosis gene causes thicker than normal mucus.
2 outcomes of this…
- Thick mucus in LUNGS –> blocks bronchioles + alveoli –> secondary lung infections
- Thick mucus in PANCREAS –> blocks exit for digestive enzyme….either..
- unable to digest food in duodenum
- self digestion of pancreas –> destruction of islets of langerhans –> stops insulin production –> diabetes mellitus (diabetes)
[ Islets of langerhans = endocrine cells in the pancreas that play a crucial role in blood sugar regulation by secreting hormones ]
dihybrid crosses
- This is where you have genes for two characteristics
- examines the inheritance of two different traits, each controlled by a separate gene, in a single breeding experiment
- why can a man not pass on a sex-linked gene to his son?
- Can blue eyes parents have brown eyed child?
- Most sex-linked genes at located on the X chromosome
- if chid is a son = man will pass his ‘Y’ chromosome not his ‘X’ chromosome
- = the man’s X chromosome containing the sex-linked gene will not be passed on
- more likely to inherot this gene from mum instead
- No, as blue yes is a recessive trait = both parentd blue eyes = bb + bb = no B allele for brown eyes present to pass down = as B is dominant for brown eyes
- Bb / BB = brown eyes
- bb = blue eyes
Red-green colour blindness.
- Difficulty distinguishing between red + green – is a recessive sex linked condition like haemophilia.
- Affects 8% of males + 0.7% of females.
- Recessive sex linked conditions are less common in women than men, because women need to inherit the condition from the father and the mother whereas a man only needs to inherit from his mother.
Blood groups
What are the 4 blood groups are their potential genotypes
Blood group –> Genotype
- A –>
Hb^A Hb^A
orHb^A Hb^O
- B –>
Hb^B Hb^B
orHb^B Hb^O
- AB –>
Hb^A Hb^B
- O –>
Hb^O Hb^O
The alleles HbA + HbB are both dominant to HbO
= HbO is recessive
HbA + HbB are co-dominant = “equally dominant”
Sickle cell anaemia
Hb^s Hb^s [homo] - person with this genotype has sickle cell anaemia.
- Painful + fatal
- Haemoglobin solubility is low when deoxygenated
- Haemoglobin is sticky + rigid = stick togethe = form crystals
- = Crystals distort RBC into a sickle shape
- RBC at risk of mechanical damage + slows/blocks blood flow
Hb^A Hb^s [hetero] - Sickle cell trait – at least half the haemoglobin is normal = cariers
- Only some red blood cells distort.
- Gives some protection against malaria - blood disease
- Natural selection increases the frequency of sickle cell allele in high malaria regions as people with sickle cell are more likely to survive against malaria
Why does Hb^A Hb^s give some protection from malaria?
In people with Hbᴬ Hbˢ (sickle cell trait):
- Their rRBC are mostly normal but can change shape slightly under stress.
- This makes it harder for the malaria parasite to survive + grow inside the RBC
- = The immune system can then destroy the infected cells faster.
- get less severe malaria infections compared to people with normal Hbᴬ Hbᴬ.
people with Hbˢ Hbˢ (sickle cell anaemia) do get some protection too…BUT their disease is so serious that it doesn’t help overall – they suffer from sickle cell anaemia’s complications.
Artificial selection / selective breeding
Natural selection
Artificial selection / selective breeding -
the process where humans choose organisms with desired traits and breed them to enhance the expression of those traits in future generations
Natural selection - process where organisms with traits better suited to their environment tend to survive and reproduce more successfully, passing on those advantageous traits to their offspring.
- This leads to a gradual change in the characteristics of a population over time = evolution
DNA
[Deoxyribonucleic Acid]
What is it and what does it do
- Double stranded molecule twisted into a helical shape = double helix
- DNA - heritable material found in all cells
- carries the geneic info needed for growth, development, + functioning of all living organisms
History of DNA
1869 Nucleic acid discovered - Johann Friedrich Miescher
1919 Molecular structure of DNA (adenine, guanine, cytosine, thymine) - Phoebus Levene
1944 found DNA carried genetic info - Oswald Avery, Colin Macleod + Maclyn McCarty
1950 defines base pairing A+T C+G - Erwin Chargaff
1953 structure of DNA discovered - James Watson, Francis Crick + Roalind Franklin
The basic structure of DNA:
- DNA is a polymer made of nucleotides
- each strand of DNA has a “backbone” of phosphate-sugar-phosphate-sugar etc…
- the backbone has a 5’ end (with a free phosphate) + a 3’ (with a free OH group)
- The 2 strands of the DNA double helix run in opposite directions = they’re antiparallel.
- 1 strand runs in the 5’ to 3’ direction, while the complementary strand runs in the 3’ to 5’ direction
What is a nucleotide made of?
What’s their roles in the structure of DNA?
building block of DNA
3 components:
- A phosphate group - forms the backbone of DNA + links to the sugar of the adjacent nucleotide
- A pentose deoxyribose sugar - acts asstructural framework + connects to the phosphate group + nirogenous base
- Nitrogenous base (1 of the 4) - determines the genetic code through base pairing (ATCG) - these bases store genetic info + form hydrogen bonds with complimentary bases
What happens to a free nucleotide when incorporated into DNA
- Free nucleotide (unincorporated into DNA strand) exists in a triphosphate form = a chain of 3 phosphates
- (sugar + base + 3 phosphates)
- When incorporated into DNA = it loses 2 of these phosphate groups = only 1 phosphate is incorporated into a strand of DNA
How is the pentose sugar in DNA different from ribose
What does this do for DNA
- Pentose sugar in DNA - modifies form of the 5-carbon sigar ribose (RNA)
- DIfference: the -OH group on the 2’ carbon of ribose is replaced by a H atom in pentose sugar
- hence the name ‘2’deoxyribose’ ( without oxygen)
- The absence of the 2’hydroxyl group makes DNA more chemically stable compared to RNA
sugar-phosphate backbone
How is a nucleotide added to a growing DNA strand during DNA synthesis?
- Incoming nucleotide triphosphate (3 phosphates) alligns with existing DNA strand
- The 3’-OH group of last nucleotide in existing strand reacts with the 5’ phosphate group of the incoming nucleotide
- = 2 phosphate groups are released from the nucleotide triphosphate = leaving behind a single phosphate
- A phosphodiester bond forms between the 3’-OH group of the existing nucleotide’s sugar + the remaining phosphate attached to the 5’ carbon of the incoming nucleotide’s sugar.
whats the 5’ end and 3’ end
- 5’ end: the end of the strand where the phosphate group is attached to the 5’ carbon of the sugar
- 3’ end: the end of the strand where the hydroxyl group is attached to the 3’ carbon of the sugar
- One strand runs in the 5’ to 3’ direction: strand begins at the top with the first phosphate connected to the sugar molecule’s 5th carbon + ends where the next phosphate would go, with a free end at the sugar’s 3rd carbon
- complementary strand runs in the 3’ to 5’ direction: strand begins at the top with a free end at the sugar’s 3rd carbon and the phosphates connect to the sugars’ fifth carbons all the way down + it ends at the bottom with a phosphate
The sugar-phosphate backbone is a critical structural feature of DNA providing:
- Stability
- The sugar-phosphate backbone forms the outer framework of the DNA double helix.
- Protection of genetic information encoded by the nitrogenous bases
- Backbone shields the nitrogenous bases from chemical/enzymatic damage.
The 4 Nitrogenous Bases in DNA
Pyrimidine v Purine structured bases
Adenine (A), Thymine (T), Guanine (G), Cytosine (C).
- These bases pair up to form the rings of the DNA double helix [A+T C+G]
Pyrimidines: Single carbon-nitrogen ring [C + T]
Purines: TWO carbon-nitrogen rings [A + G]