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Genes and Health

Quiz yourself by thinking what should be in each of the black spaces below before clicking on it to display the answer.
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Question
Answer
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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