Genes and Health
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How do gases such as oxygen cross the walls of the alveoli in to the blood system. | show 🗑
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show | Large surface area of the alveoli, Numerous capillaries around the alveoli and Thin walls of the alveoli and capillaries meaing a short distance between the alveolar air and blood in the capillaries.
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show | Surface Area; as it increases the rate of diffusion increases, Concentration gradient; greater the concentration gradient, the faster the diffusion.Thickness of gas exchange surface; thicker the surface, the slower the diffusion. Ensure Rapid diffusion.
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show | Rate of Diffusion = SA X Difference in Conc/ Thickness of Gas Exchange Surface.
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show | 20.
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Draw a structure of the Amino Acid. | show 🗑
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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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show | Interactions between the Polypeptide chains cause the chain to twist and fold into 3D shape. A-helix/Beta Pleated sheet where within Hydrogen bonding occur; between the C=O and NH; holding the parallel chains.
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What is Tertiary Structure? | show 🗑
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show | They are polar and attract other polar molecules like water therefore Hydrophillic. Some parts are Non-polar therefore Hydrophobic and therefore they are arranged so they face inside of the Protein.
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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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show | Two or more polypeptide chains held together by Hydrogen bonds. For example Haemoglobin.
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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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What are Fibrous proteins? | show 🗑
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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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What are the properties of a Phospholipid? | show 🗑
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Why do they form a Bilayer? | show 🗑
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Why do they form a Fluid Mosaic Model? | show 🗑
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What does a Fluid mosaic model contain? | show 🗑
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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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What is Diffusion? | show 🗑
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show | High to Low concentration until equilibrium has reached.
Hydrophillic molecules or ions; through a Carrier Protein &Channel Protein. Passive.
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show | Channel: Filled with Water filled pores, different for transporting different molecules. Specific shape that permits the passage of particular ion or molecule.
Carrier:Ion/molecule binds to spec site. Protein changes shape and Ion/molecule passes through
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What is Osmosis? | show 🗑
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What is Active Transport? | show 🗑
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show | 1. Release of substances from the cell as vesicles fuse with cell membrane. E.g. Insulin 2. Substances are taken into a cell by the creation of a vesicle, Cell membrane engulfs material. E.g. cholestrol and WBC. Bulk Transport.
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What happens if they're are excess water? | show 🗑
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What happens if they're too little water in the mucus? | show 🗑
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show | CFTR Channel cannot function properly.
Different Amino Acid sequence on defective CFTR protein
Change in protein, the role of protein in transporting Cl ions,X move out of cells .
Na ions move in, Water X move out of cells osmosis.
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show | Mucus thicker,thickened mucus X be moved out by cilia/coughing
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show | Mucus blocks pancreatic duct in pancreas
Enzymes X be secreted - small intestine Reduced digestion of food
Reduced absorption ,malnutrition/weightloss
Self-digestion of pancreatic cells / problems controlling blood sugar level/cysts/Fibroid
High met
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Explain how cystic fibrosis affects gas exchange? | show 🗑
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show | Female have reduced chance - pregnant; mucus plug develops in cervix; stops sperm from reaching egg
Males lack vas deferens on both sides; sperm can't leave testes. It can become partially blocked by thick sticky mucus layer; fewer sperm are present.
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show | Globular Proteins that act as biological catalysts. Speed up chemical reactions. Three- dimensional shape includes a depression on surface- Active Site; binds to spec substrate. Reduce Activation Energy and remain unchanged.
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show | Lock and Key Theory- Spec molecule can fit into active site. Substrate molecule form temp bonds with Amino acids to produce ASC.
Each enzyme will only catalyse one spec reaction; one shape will fit the site.
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How do Enzymes work? [2] | show 🗑
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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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How to measure Rate of reaction? | show 🗑
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show | DNA contains the genetic code which dictates all the inherited characteristics of an organism.
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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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show | Three molecules linked together by condensation reactions; Deoxyribose, Phosphate group and Organic base. Adenine, Cytosine, Guanine, Thymine. ACGT.
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What are the two chains of nucleotides held by? | show 🗑
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What is the genetic code? | show 🗑
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show | Each adjacent group of 3 bases
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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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show | Messnger RNA, Transfer RNA and Ribosomal RNA.
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show | Transcription and Translation.
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What is Transciption? | show 🗑
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What is Transcription? [2] | show 🗑
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show | - Takes place on Ribosomes
- tRNA carrying the Amino Acid has 3 bases called anticodon and these pair with Complementary bases on the mRNS codon.
- Joins by Peptide bond.
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show | - DNA double helix unwinds and H bonds break
- Free nucleotide line up alongside each DNA strand
- Enzyme DNA polymerase linkes adj molecules to form Comp strand.
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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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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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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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What is a locus? | show 🗑
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What is an allele? | show 🗑
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show | g
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What is Phenotype? | show 🗑
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What is a Dominant allele? | show 🗑
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show | m
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What is Monohybrid Inheritance? | show 🗑
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What is Beta Thalassaemia? | show 🗑
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show | Albinism, Phenyketonuria and Sickle Cell Anaemia.
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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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What are the treatments for Cystic Fibrosis? | show 🗑
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Describe the process of Gene therapy. | show 🗑
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Gene Therapy [2] | show 🗑
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How genes are inserted using viruses? | show 🗑
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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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show | Genetic testing; identifying abnormal gene in the DNA.Where cells are extracted from cheek cells, white blood cells or cells from foetus/embryo. DNA is tested to see if it contains the known base sequences for the mutation.
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How can Genetic Testing also help? | show 🗑
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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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show | Placental tissue removed from womb of
mother
Fetal cells present in placenta/ placental
tissue / chorionic tissue / fetal cells needed
DNA can be analysed
To detect defective gene(s) in sample
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Discuss Ethical and Social implications towards Genetic testing? | show 🗑
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What is PIGD? | show 🗑
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State 4 ethical frameworks for the genetic screening and abortion. | show 🗑
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How does Genetic counselling help? | show 🗑
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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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show | R group-chemical side chain:different for every amino acid.
-POLAR:Electrons shared unevenly,attracts other polar molecules,Hydrophillic.Fold so the polar parts are on the the outside. Non Polar R groups, Hydrophobic;face inside.+ Sulfur, Disulfide bond.
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Describe the three-dimensional (tertiary) structure of an enzyme | show 🗑
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Explain how the primary structure of an enzyme determines its three-dimensional (tertiary) structure and its properties. | show 🗑
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