With Complete Solution
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.
, 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 lead to a variety of diseases. Normally, the
chaperones that help new proteins fold can also help misfolded proteins refold into the correct
structure.
Genetic mutations that substitute one amino acid for another can cause incorrect folding.
What are the 4 levels of protein structure? - Answer--1. Primary-chain of amino acids. PEPTIDE bonds
form a polypeptide chain. This is a covalent bond (very strong) and does not denature.
2. Secondary-alpha helix and beta sheet. HYDROGEN bonds that contain the carboxyl group and amino
groups. Denatured by salt and pH change.
3. Tertiary-side chain interaction (R group). Changes are seen with high temp, salt, change in pH, and
reducing agents. (ex: sickle cell, arthritis, hemophilia)
4. Quarternary-more than 1 polypeptide. Change seen with increased temp. (Ex: Hgb)
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'