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1. Hemophilia Pedi- His daughters would be carriers. This is x-link recessive.
gree - Father
has hemophilia,
mother does not.
What is the out-
come for their
kids?
2. Autosomal: Autosomal: males and females equally affected.
Dominant: Dominant: non-carrier parents
3. polymerase The process of copying DNA in the lab. Uses Template
chain reaction DNA, Nucleotides (dNTPS), DNA Polymerase, and DNA
(PCR) primers.
4. 3 Steps of PCR 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 poly-
merase, adding nucleotides building a new DNA strand.
5. Base Excision How you repair a mutation. BER is used to repair damage
Repair (BER) 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.
6. Mismatch repair replication. DNA polymerase proofreads but sometimes
(MMR) occurs a mismatch pair gets through. MMR removes a large
during: section of the nucleotides from the new DNA and DNA
polymerase tries again. (Ex: C-T instead of C-A)
7. Mismatch Repair When a base is mismatched due to errors in replication.
corrects what Such as G-T instead of G-C. DNA polymerase comes by
kind of DNA dam- and fixes it.
age?
8.
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What happens TRANSCRIPTION! DNA polymerase takes the individual
when DNA poly- nucleotides and matches them to the parental sequences
merase binds to to ensure a correct pair. It must bind with RNA primer to
DNA to make work.
RNA?
9. What is needed DNA polymerase
for DNA replica-
tion?
10. Nonsense Muta- Change in 1 nucleotide produces a STOP codon Stop=
tion nonsense because it is no more.
11. Silent Mutation Change in 1 nucleotide but codes for the same amino
acid. Silent= the change doesn't change the name of the
protein
12. Missense Muta- Change in 1 nucleotide leads to a code for a different
tion amino acid. Missense = mistake was made.
13. What happends During RNA splicing introns are cut out, the remaining
during RNA exons are joined together.
splicing?
14. 5'ATG AGT CTC 3'TAC TCA GAG AGA 5'
TCT 3' The DNA template strand is complimentary. So start with
Find the DNA the opposite number, then go L-R with the complimentary
template strand. letter.
15. 5'ATG AGT CTC 5'AUG AGU CUC UCU 3'
TCT 3' This sequence is the same as the coding strand except T
What is the cor- changes to U because it is RNA. RNA doesn't have T.
resonding mRNA
sequence?
16. How would a This will make a missense mutation because it changes
mutation from the name of the protein. (look at the chart provided.)
CTC to ATC af- missense = mistake
fect the pro-
tein sequence?
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(CTC/ATC - cod-
ing strand, AUC -
mRNA strand)
17. DNA replication DNA ->Transcription -> RNA -> Translation -> Polypeptide
process
18. Describe how This is an amino acid. Look for the "R" group. Alanine
you would find is a hydrophobic amino acid that has CH3. It is a weak
what ionized Ala- interaction. An ionized acid will have a + or - charge.
nine looks like.
19. Describe what Protein misfolding is caused by intracellular tangles and
causes the mis- extracellular plaques (senile plaques) caused by abnor-
folding of protein mal protein aggregation.
in Alzheimer's TAU is fibrous material inside cells where the connections
Disease. are lost. This becomes defective and forms filaments in
the neuron.
Amyloid-Beta is a large precursor protein in the cell. Ex-
cess amyloid-beta creates senile plaques. This starts in
the hippocampus and moves up.
20. Describe the Alzheimer's is the most common neurodegenerative dis-
process of ease. The formation of aggregated amyloid-beta fibers
neurodegenera- is another characterisitc of Alzheimer's. However, neu-
tive protein rodegeneration and memory loss can be detected before
aggregation. amyloid fibers accumulate in the brain.
21. What are the mol- Molecular chaperones are protein helpers. They bind to
ecules that help the newly made polypeptide and enable proper folding.
denatured pro- Proper protein folding is vital b/c proteins that do not fold
teins with fold- properly can lead to a variety of diseases. Normally, the
ing? chaperones that help new proteins fold can also help
misfolded proteins refold into the correct structure.
Genetic mutations that substitute one amino acid for an-
other can cause incorrect folding.
22. What are the 4 1. Primary-chain of amino acids. PEPTIDE bonds form a
levels of protein polypeptide chain. This is a covalent bond (very strong)
structure? and does not denature.