Genes and Health
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| show | Through Diffusion. Therefore to supply enough oxygen, gas exchange must be rapid.
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| What helps gas exchange? | show 🗑
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| What is the rate of diffusion dependent on? | show 🗑
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| What is Flick's law? | show 🗑
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| show | 20.
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| show | [Diagram]
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| show | The sequence of Amino Acids in a polypeptide chain joined by a peptide bond
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| show | A bond between amino acids formed by the loss of water in a condensation reaction.
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| What is Secondary Structure? | show 🗑
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| show | Three Dimensional shape
Interaction between R groups
Disulphide bond,Hydrogen bonds,Hydrophobic
interactions (between R groups), Polar interactions
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| What are the properties of the R group? | show 🗑
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| show | Primary structure position/sequence of the amino acids / R groups determines the positioning of the bonds / folding
Solubility
Polar/Hydrophilic on the outside of
enzymes / Non polar /Hydrophobic on the
inside
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| What is a Quaternary structure? | show 🗑
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| What is a conjugated protein? | show 🗑
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| show | Globular and Fibrous.
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| What are Globular proteins? | show 🗑
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| show | Remain in long chains, can be cross linked for strength. Insoluble. Important for structural molecules; E.g. Keratin in skin, Collagen in nails.
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| show | Is when all the molecules are arranges so that the Hydrophobic tails are inside the Bilayer. As cells are filled with watery/aqueous cytoplasm and tissue fluid. Avoids Hydrophobic fatty tails being in contact with the water
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| What does the Phospholipid contain? | show 🗑
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| show | Phosphate is polar and attracts other polar molecules like water. A bilayer will tend to close on itself so that there are no edges with hydrocarbon chains.
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| show | Fatty acids/tails} are hydrophobic/non-polar so orientate themselves away from Water
Phosphate heads} are hydrophilic /polar so can interact with water / polar environment
Cytoplasm / tissue fluid as the polar environment
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| Why do they form a Fluid Mosaic Model? | show 🗑
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| show | Proteins, Glycolipids ;Cell Recognition Glycoproteins;Antigens and Receptors Cholestrol;Reduces fluidity by preventing movement of PB, Channel Proteins; Allows substances to move in or out, Phospholipids.
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| What are the 4 different evidence's for the Fluid Mosaic Model. | show 🗑
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| show | It would become more fluid, as there are more kinks therefore it prevents them from packing closely together.
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| show | Net movement of molecules or ions from a region where they are are high concentration to a region of low concentration. Until it has reached an equilibrium. Hydrophobic or small uncharged molecules through PB. Passive. E.g. Carbon Dioxide and Oxygen
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| What is Facilitated Diffusion? | show 🗑
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| What is a Channel and Carrier Protein? | show 🗑
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| What is Osmosis? | show 🗑
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| show | When energy is required to change the shape of the carrier protein and move the substance across the membrane against conc grad. Active. Energy comes from respiration in the form of ATP, which changes the shape.
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| What is Exo/Endocytosis? | show 🗑
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| show | Detected-Cell Membrane
Carrier proteins-pump Na+
Na+ diffuse down conc grad.
Into cell-FD-Na channels
Inc.in Na in TF,creates pot.difference.
+ ions in mucus, electrical gradient; Cl ions to move out into TF
Increase in Na and Cl,draws water by osmo
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| What happens if they're too little water in the mucus? | show 🗑
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| What is Cystic Fibrosis? | show 🗑
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| show | Mucus thicker,thickened mucus X be moved out by cilia/coughing
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| Explain how cystic fibrosis affects the digestive system | show 🗑
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| Explain how cystic fibrosis affects gas exchange? | show 🗑
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| Explain how cystic fibrosis affects reproductive system? | show 🗑
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| What are Enzymes? | show 🗑
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| How do Enzymes work? | show 🗑
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| show | Induced fit theory- Substrate enters AS, Enzyme molecule changes shape fit's close around substrate. Only specific substrate will induce the change in shape of an enzyme's active site.
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| How do Enzymes work? [3] | show 🗑
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| show | Specific shape of the enzyme's active site and comp structure- Electrically charged groups on surfaces interact. Attraction may distort shape of substrate & assist breaking of bonds and form new bonds.Or acidic side chains-provide condition for reaction.
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| show | Determining the quantity of substrate used or the quantity of product formed. Measuring the amount of oxygen given off in a known time. As substrate is used, there are fewer substrate molecules to bind with and therefore slows down.
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| What does DNA contain? | show 🗑
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| What is a gene? | show 🗑
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| What is a genome? | show 🗑
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| What does DNA stand for? | show 🗑
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| What does a mononucleotide contain? | show 🗑
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| show | Hydrogen bonds.
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| What is the genetic code? | show 🗑
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| What is a triplet code? | show 🗑
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| show | A copy of the DNA, which can leave the nucleus towards the cytoplasm; to make proteins.
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| What is the difference between DNA and RNA? | show 🗑
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| What are the three types of RNA? | show 🗑
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| show | Transcription and Translation.
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| show | - Takes place in nucleus
- DNA double helix unwinds & H bonds break
- Free nucleotides line up
- Enzyme DNA Polymerase bonds nucleotides together,Phosphodiester bonds form between Deoxyribose & Phosphate group.
- Hydrogen bonds link 2 strands togeth
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| What is Transcription? [2] | show 🗑
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| What is Translation? | show 🗑
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| What is DNA Replication? | show 🗑
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| show | DNA from E-Coli,grown in medium with heavy isotope,15N(Denser)moved to 14N. New nucleotides were light, they allowed bacteria to divide & DNA to replicate. Extracted & centrifuged DNA. Medium DNA, in middle; contains heavy & light nucleotides.
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| What is a mutation? | show 🗑
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| show | Mutation in gene;codes for 1 of the polypeptide chains in haemoglobin.mRNA is GUA than GAA. Protein;non-polar AA valine than Glutamic acid. Haemoglobin-less soluble.Oxygen is low,form long fibres;stick together;distorts shape. Half moon cells carry less o
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| show | When genetic code is copied,mistakes can be made in new base sequence.Can be passed onto future generations. If it occurs within a gene & new base triplet that codes for a stop signal or different amino acid; protein formed may be faulty.Genetic Disorder.
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| show | Mutation in gene;codes for 1 of the polypeptide chains in haemoglobin.mRNA is GUA than GAA. Protein;non-polar AA valine than Glutamic acid. Haemoglobin-less soluble.Oxygen is low,form long fibres;stick together;distorts shape. Half moon cells carry less o
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| show | A position of a gene in a chromosome.
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| What is an allele? | show 🗑
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| What is Genotype? | show 🗑
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| show | gh
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| What is a Dominant allele? | show 🗑
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| show | m
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| show | Characteristics is controlled by one gene.
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| show | Genetic disease caused by recessive allele of a gene on chromosome 11.
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| What other conditions are caused by single recessive alleles? | show 🗑
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| What other plant's charcateritic is determined by one gene e.g. whether plants are tall or short, seeds are smooth or wrinkled? | show 🗑
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| show | 1. Medication
- Bronchodilators, Antibiotics, DNAase enzymes, Steroids.
2. Diet
3. Digestive Enzyme Supplement
4. Physiotherapy
5. Heart and Lung Transplant
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| show | 1. Normal alleles of the gene are inserted into the target cells, using a virus or liposomes.
2. They are transcribed and translated.
3. Protein is produced in the target cells.
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| show | Using alleles / genes coding for the CFTR protein /channel
Introduce the alleles into the cells
Lungs /pancreas/reproductive tracts
Produce mucus
Use a vector, nebuliser or injection
Repeated
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| show | 1.Virus;DNA sequence(replicates)removed
2.Replaced-normal allele of desired gene + promoter sequence; initiates transcription and translation
3.Viral DNA remains independent in nucleus- Inflammatory Response, headache, fatigue, fever and raised heart ra
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| show | 1.Copy of Normal allele,inserted into a loop of DNA (plasmid)
2.Plasmids combined with liposomes.
3.+ charged head groups of Phospholipids combine with DNA,form a liposome DNA complex
4.Aerosol;nebuliser
5.Fuse with epithelial cells & carry DNA into c
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| show | As it could affect future generations.
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| How would you test someone with Cystic Fibrosis? | show 🗑
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| show | To identify carriers; where a sample of blood or cells are taken from the mouth; to deteact abnormal alleles in people with the disease. Family history can help and Counselling is offered before and after tetsing and parents can make informed decisions.
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| show | Amniotic fluid removed from amniotic sac of
mother
Fetal/embryonic cells present in amniotic
fluid fetal / embryonic cells needed
DNA can be analysed
To detect defective gene in sample
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| What is Chorionic Villus Sampling? | show 🗑
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| Discuss Ethical and Social implications towards Genetic testing? | show 🗑
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| show | IVF can test an embryo before it is implanted in the uterus. Cell can be removed from embryo in culture; 8/16 cells. DNA can be analysed. Expensive,fairly unreliable.
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| show | 1.Rights and duties; human rights,duties and religious teachings.
2.Maximising good (Utilitarian)
3.Making decisions for yourself- Informed consent
4.Leading virtuous life- Virtues and justice.
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| show | -Help couple understand
-Tests available and possible courses of action
-Help couple make informed decisions
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| show | -Walls of alveoli,one cell thick
-Walls of blood capillaries, one cell thick
-Alveoli covered with dense network of capillaries
-Concentration gradients maintained by blood flow
-Large Surface Area, by Alveoli
-Oxygen combines rapidly with Haemoglob
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| What is the significance of the R groups in the folding of the 3D shape? | show 🗑
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| Describe the three-dimensional (tertiary) structure of an enzyme | show 🗑
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| show | -Primary structure position,order of the {amino acids / R groups} /
-Type of the {bonds / folding
-Shape/properties active site
-Interaction of AS & substrates e.g.ESC
-Polar/hydrophilic,outside of enzymes/non polar /hydrophobic inside
-Solubilit
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