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Hemophilia Pedigree - Father has hemophilia, mother does not. What is the outcome for their kids?
✔✔His daughters would be carriers. This is x-link recessive.
Autosomal:
Dominant: ✔✔Autosomal: males and females equally affected.
Dominant: non-carrier parents
polymerase chain reaction (PCR) ✔✔The process of copying DNA in the lab. Uses Template
DNA, Nucleotides (dNTPS), DNA Polymerase, and DNA primers.
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 polymerase, adding nucleotides building a new
DNA strand.
Base Excision Repair (BER) ✔✔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: ✔✔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? ✔✔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? ✔✔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? ✔✔DNA polymerase
Nonsense Mutation ✔✔Change in 1 nucleotide produces a STOP codon Stop= nonsense because
it is no more.
Silent Mutation ✔✔Change in 1 nucleotide but codes for the same amino acid. Silent= the change
doesn't change the name of the protein
, Missense Mutation ✔✔Change in 1 nucleotide leads to a code for a different amino acid. Missense
= mistake was made.
What happends during RNA splicing? ✔✔During RNA splicing introns are cut out, the remaining
exons are joined together.
5'ATG AGT CTC TCT 3'
Find the DNA template strand. ✔✔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? ✔✔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) ✔✔This will make a missense mutation because it changes the name of the
protein. (look at the chart provided.) missense = mistake
DNA replication process ✔✔DNA ->Transcription -> RNA -> Translation -> Polypeptide