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68 Cards in this Set
- Front
- Back
aneuploidy
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any time you have a different number of chromosomes other than 46
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trisomies
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three chromatids instead of a pair (mutation)
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nondisjunction
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how you get aneuploidy
either the chromosomes or chromatids seperate incorrectly. |
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downs syndrome
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an extra in the 21st pair
trisomie 21 |
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sex determination
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embrios are exactly the same until week 7
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SRY gene
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sex determining region of the y
at week 7 it turns on undergoes transcription and translation TDF proteins are made |
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TDF
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testies determining factor
goes to the undifferentiated gonads and the gonads turn into testies |
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gonads
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TDF turns gonads into testies
if no TDF protein made then gonads turn into overies by default |
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klinefelters
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XXY, XXXY, XXXXY
male, do not produce sperm, under developed testies, breast enlargement 1/500 men have |
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turners
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XO or X
females with only one X, overlies are underdeveloped, sterile, under 5 ft tall, webbed neck, broad chest 1/2500 women have |
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XYY
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men who are taller than average, higher incadence of criminal acts and personality disorder
1/1000 men have |
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OY
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not viable
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sex linked inheritance
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a gene that is linked with the gametes chromosome
Y can not be a carrier muscular distrophy, color blindness, hemophilia |
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heritable changes in chromosomes
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inversion
duplication translocation deletion |
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inversion
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large section of chromosome gets reversed
BCD ---> DCB |
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duplication
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section of chromosome is duplicated
BCD ---> BCDBCD huntingtons |
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translocation
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part if the chromosome comes off and sticks to non homologous chromosome
totally different gene |
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deletion
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part of the chromosome is deleted
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scientific method
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Observation
hypothesis Prediction test /experiment |
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Isotope
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An atom with a varying number of neutrons
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Atomic number
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Number of electron
top number |
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Atomic mass
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mass of protons neutrons and electrons
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Mass number
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Protons and neutrons
Bottom number |
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Cation
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Positively charged
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anion
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Negatively charged
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Covalent bond
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Electrons shared
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Hydrogen bond
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The partial positive and partial negative attract making a semi bond
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Hydrophilic
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Water loving
polar |
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Hydrophobic
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Water fearing
Nonpolar |
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Hydrolysis
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Reactions were the molecules or broken down with water
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Dehydration
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Reactions where water is removed in order to synthesize larger molecule
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Electrolyte
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an ion
Anything that can conduct electricity |
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Buffers
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convert a strong acid or base into a weak acid or base
add acid to a buffered base the pH won't change |
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Carbonic acid bicarbonate buffer system
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H+ + HCO3- ----> H2CO3
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Functional groups
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Hydroxyl
methyl carboxyl Amina phosphate |
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Types of carbohydrates
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Monosaccharides
disaccharides polysaccharides |
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Types of lipids
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Triglyceride
phospholipids steroids |
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What are amino acids joined by
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Peptide bond
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Protein structure
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Primary
secondary tertiary quarternary |
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Membrane protein function
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Ion channel
transporters receptors enzyme cell identity markers anchoring protein |
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Down the gradient
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High to low concentration
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Types of membrane transport
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Simple diffusion
ion channels osmosis |
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Types of osmosis
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Isotonic
hypotonic hypertonic |
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isotonic osmosis
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Same amount of solute on both sides of the cell membrane
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Hypotonic osmosis
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What solute in the cell
Water goes in cell |
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hypertonic osmosis
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Higher concentration of solute outside of cell
water goes out of cell |
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Crenation
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cell shrivels
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hemolysis
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cell explodes
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Facilitated diffusion
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High to low concentration
transporter carry solute no ATP used |
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endocytosis
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vesicle bring in
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exocytosis
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Vesicle bring out
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G protein
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Intracellular signaling
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What makes up the cytoskeleton
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Microfilament
intermediate filament microtubules |
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Types of cell junctions
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Adhering
gap tight |
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ATP chemical formula
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ATP+H2O ----> ADP+P+ENERGY
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Glycolysis
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2 ATP used
2 NADH 4 ATP |
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aerobic respiration
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38 ATP created
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Aerobic restoration general formula
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C6 H12 O6 + 6O2 ---> 6CO2 + 6H2O +38ATP
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krebbs cycle
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6NADH 2FADH2 2ATP
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Amino acid entering glycolysis
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Through pyruvate
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Glycerol entering glycolysis
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Through PGAL
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Glucose from protein and fat entering glycolysis
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Music routines are made
make glucose or fat make ATP |
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intron
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Noncoding
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exon
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coding
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DNA mutation
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Point
Missense nonsense frame shift |
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operon
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A gene and its regulatory region
operator repressor Terminator inducer |
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Control mechanism
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Acetyl enhancer transcription
methyl blocks transcription |
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RNA interference
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Blocks translation
break mRNA |