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28 Cards in this Set
- Front
- Back
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Name some diseases caused by single gene mutations
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Sickle Cell Anemia
Thalassemia Tay-Sachs Phenylketonuria Cystic Fibrosis Caused by dominant allele: Hypercholesterolemia Huntington's disease |
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Vertical Pattern
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Rare dominant trait. Shows up in every generation.
Example: Huntington disease |
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Horizontal Pattern
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Rare recessive trait. Shows up in a generation without presence in previous generations.
Example: Cystic Fibrosis |
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Biological System
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A complex network of interacting molecules or group of cells that function in a coordinated manner.
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What are the common single gene traits?
Out of those which are dominant? |
Tay-Sachs
Cystic Fibrosis Huntington's disease SSA Thalassemia PKU Hypercholesterolemia Huntington's disease |
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Describe Griffith's experiment and what it discovered
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Discovered Transformation.
Used S(virulent) and R (avirulent) strands. Injected S, mouse died Injected R, mouse lived Injected heat killed S, mouse lived Injected heat killed S + live R, mouse died. Something (DNA) from heat killed S form transformed the living R form into S. |
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Describe Avery's experiment and what it discovered
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Avery was after the 'transforming' principle.
He purified the transforming principle and ran it through several enzymes - Protease, RNase, DNase... DNase caused the R form to stay R form. No transformation. DNA is the transforming principle |
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Hershey and Chase's experiment
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Two different sets of T2 phage were grown.
Set one on radioactive phosphorus (32P). The other on radioactive sulfur (35S). Used Waring blender to separate viral ghosts from cells. Centrifuged. Most of sulfur was in supernatant, most of phosphorus was in pellet. The pellet was derived from cell, so radioactive phosphorus came from the cell, meaning DNA was in the cell, and the coat was made of protein |
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What did Chargaff discover?
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Base pairing. G same percentage as C, T same as A
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What are the four requirements for DNA to be the genetic material?
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Must carry information
Must replicate Must have mutation ability Phenotype expression |
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What did the meselson stahl experiment confirm?
How was it done? |
Semi conservative replication
Grew cells in 15N medium. Put cells in 14N medium. Centrifuged in cesium chloride gradient. Found bands with 14N14N, 14N15N, and NO 15N15N |
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Who deduced the replication steps?
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Arthur Kornbuerg
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Mutation type:
Inversion |
180 degree rotations of a segment of a DNA molecule.
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Mutation type:
Reciprocal translocation |
parts of two nonhomologous chromosomes change places
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Are most mutations spontaneous or induced?
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Spontaneous.
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Luria and Delbrook experiments
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Determined that most mutations are spontaneous.
Fluctuation test. If resistance arises only upon exposure to bactericide, then mutation should be normally distributed. If resistance occurs before exposure, then there should be fluctuation in number |
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Xeroderma pigmentosum
what causes it? |
Caused by a lack of a critical enzyme in the nucleotide excision repair system
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How many origins of replication in bacteria?
How many in eukaryotes? |
One
Many |
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Which polymerase has 3 to 5 exonuclease activity?
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Polymerase III
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Telomerase can be thought of as what kind of enzyme?
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Reverse transcriptase
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In eukaryotic transcription
1. Primase activity 2. Primary synthesis 3. What degrades RNA primers in eukaryotic replication? |
1. Polymerase alpha
2. Polymerase delta, with proteins called PCNA and RFC 3. FEN-1 and RNase |
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Which DNA polymerase is involved in mitochondrial replication?
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Gamma
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Which polymerase is not involved in replication?
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B
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Which Polyermases have no exonuclease activity?
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alpha and beta
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Cell cycle
1. G stands for 2. Sequence 3. Longest part? 4. Variance of times 5. Cells that are quiescent |
1. Gap
2. M mitosis G1 rapid growth S dna synthesis G2 short period, preparing for division 3. g1 4. 24 hours to hundreds of days 5. G0 |
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Base excision repair
1. what kind of enzymes are used? 2. What kind of site is created when the base is released? 3. This is very important in... 4. What makes a nick in the backbone? |
1. DNA glycosylases
2. AP site - apurinic or apyrimidinic 3. the removal of uracil 4. AP endonuclease |
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Nucleotide excision repair
1. Any DNA glycosylase? |
NOO
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What does AMES test test for?
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Known carcinogens
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