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An infant has been brought in, previously diagnosed with circulatory…
An infant has been brought in, previously diagnosed with circulatory problems and anemia. When looking at the infants blood under a microscope it's discovered that the infant's blood cells are shaped like red bananas. This is a telling sign of sickle cell disease, which the mother informs you that the family has a history of. A single nucleotide error in the DNA is the cause, and only affects hemoglobin.
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Downstream Effect
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One copy of gene
Abnormal blood cells will be present, but so will normal ones
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Background Information
Cell Structures
Cytoplasm
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Consists of 3 parts
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Organelles
Metabolic machinery of the cell, each carrying out a specific function
Cytosol
Viscous, semi transparent liquid where everything is suspended
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Cell membrane
Semi-permeable
Non-ionic, small molecules allowed to pass
Phospholipid Bilayer
Polar heads, hydrophobic tails
Macromolecules
Carbohydrates
Function in Body
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Simple sugars already partially digested, complex sugars take longer to break down
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Examples
Simple sugars, ending in -ose
Glucose, Sucrose, Cellulose, Starch, Chitin
Chemical Composition
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C6H12O6; Carbon, Hydrogen, Oxygen
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Monomer
Monosaccharide; glucose, sucrose
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Lipids
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Examples
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Steroid Hormones, Sex Hormones
Chemical Composition
C H O; Carbon, Hydrogen, Oxygen
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Sometimes special N and P groups (NItrogen, Phosphorous)
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Proteins
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Examples
Proteins in: Meat, eggs, dairy and sometimes plants
Chemical Composition
C H O N; Carbon, Hydrogen, Oxygen, Nitrogen
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Nucleic acids
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Chemical Composition
C H O N P; Carbon, Hydrogen, Oxygen, Nitrogen, Phosphorous
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DNA
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RNA
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In viral cells, is the main source of genetic information
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Chromosome
Two chromatids joined together, making a threadlike organelle comprised of DNA
Organelles
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Golgi Apparatus
Packages, modifies, and segregates proteins to be released from cell
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