Hemophilia Pedigree - Father has hemophilia, mother does not. What is the outcome for
their kids? - Answer His daughters would be carriers. This is x-link recessive.
Autosomal:
Dominant: - Answer Autosomal: males and females equally affected.
Dominant: non-carrier parents
polymerase chain reaction (PCR) - Answer The process of copying DNA in the lab.
Uses Template DNA, Nucleotides (dNTPS), DNA Polymerase, and DNA primers.
3 Steps of PCR - Answer 1. Denaturation: DNA is heated to 95C to separate it.
2. Annealing: reaction is cooled to 50C; primers stick to the DNA you want to copy and
add DNA polymerase.
3. Elongation: reaction heated to 70C and DNA polymerase, adding nucleotides building
a new DNA strand.
Base Excision Repair (BER) - Answer How you repair a mutation. BER is used to repair
damage to a base caused by harmful molecules. You remove the base that is damaged
and replace it. *BER removes a single nucleotide*
DNA glycolsylase - sees damaged DNA and removes it.
DNA polymerase-puts the right one back in while DNA ligase seals it.
Mismatch repair (MMR) occurs during: - Answer replication. DNA polymerase
proofreads but sometimes a mismatch pair gets through. MMR removes a large section
of the nucleotides from the new DNA and DNA polymerase tries again. (Ex: C-T instead
of C-A)
Mismatch Repair corrects what kind of DNA damage? - Answer When a base is
mismatched due to errors in replication. Such as G-T instead of G-C. DNA polymerase
comes by and fixes it.
What happens when DNA polymerase binds to DNA to make RNA? - Answer
TRANSCRIPTION! DNA polymerase takes the individual nucleotides and matches them
to the parental sequences to ensure a correct pair. It must bind with RNA primer to
work.
What is needed for DNA replication? - Answer DNA polymerase
Nonsense Mutation - Answer Change in 1 nucleotide produces a STOP codon Stop=
nonsense because it is no more.
Silent Mutation - Answer Change in 1 nucleotide but codes for the same amino acid.
Silent= the change doesn't change the name of the protein
, Missense Mutation - Answer Change in 1 nucleotide leads to a code for a different
amino acid. Missense = mistake was made.
What happends during RNA splicing? - Answer During RNA splicing introns are cut out,
the remaining exons are joined together.
5'ATG AGT CTC TCT 3'
Find the DNA template strand. - Answer 3'TAC TCA GAG AGA 5'
The DNA template strand is complimentary. So start with the opposite number, then go
L-R with the complimentary letter.
5'ATG AGT CTC TCT 3'
What is the corresonding mRNA sequence? - Answer 5'AUG AGU CUC UCU 3'
This sequence is the same as the coding strand except T changes to U because it is
RNA. RNA doesn't have T.
How would a mutation from CTC to ATC affect the protein sequence? (CTC/ATC -
coding strand, AUC - mRNA strand) - Answer This will make a missense mutation
because it changes the name of the protein. (look at the chart provided.) missense =
mistake
DNA replication process - Answer DNA ->Transcription -> RNA -> Translation ->
Polypeptide
Describe how you would find what ionized Alanine looks like. - Answer This is an amino
acid. Look for the "R" group. Alanine is a hydrophobic amino acid that has CH3. It is a
weak interaction. An ionized acid will have a + or - charge.
Describe what causes the misfolding of protein in Alzheimer's Disease. - Answer Protein
misfolding is caused by intracellular tangles and extracellular plaques (senile plaques)
caused by abnormal protein aggregation.
TAU is fibrous material inside cells where the connections are lost. This becomes
defective and forms filaments in the neuron.
Amyloid-Beta is a large precursor protein in the cell. Excess amyloid-beta creates senile
plaques. This starts in the hippocampus and moves up.
Describe the process of neurodegenerative protein aggregation. - Answer Alzheimer's is
the most common neurodegenerative disease. The formation of aggregated amyloid-
beta fibers is another characterisitc of Alzheimer's. However, neurodegeneration and
memory loss can be detected before amyloid fibers accumulate in the brain.
What are the molecules that help denatured proteins with folding? - Answer Molecular
chaperones are protein helpers. They bind to the newly made polypeptide and enable
proper folding. Proper protein folding is vital b/c proteins that do not fold properly can