Solution
HemophiliaPedigree- Fatherhas hemophilia,motherdoesnot.What istheoutcomefortheirkids? -
His daughterswould be carriers.This is x-link recessive.
Autosomal:
Dominant:- Autosomal:malesand femalesequallyaffected.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 Stepsof PCR - 1. Denaturation:DNA is heatedto 95C toseparateit.
2. Annealing: reaction is cooled to 50C; primers stick to the DNA you want to copy
addand
DNA
polymerase.
3. Elongation:reactionheatedto 70C and DNA polymerase,addingnucleotidesbuildinga newDNA
strand.
BaseExcision Repair(BER) - How you repaira mutation.BER is usedto repairdamageto a base caused
by harmful molecules. You remove the base that is damaged replace
and it.*BER removes asingle
nucleotide*
DNA glycolsylase- seesdamagedDNA and removesit.
DNA polymerase -putstheright oneback in whileDNA ligasesealsit.
Mismatch repair (MMR) occurs during: - replication. DNA polymerase proofreads but
sometimes a
mismatch pair gets through. MMR removes a large section of nucleotides
the from the new DNA and
DNA polymerase tries again. (Ex:-TC instead of C-A)
Mismatch Repair corrects what kind of DNA damage? - When a base is mismatched
due to errors
in replication. Such as -GT instead of G-C. DNA polymerase comes by
and fixesit.
What happens when DNA polymerase binds to DNA to make RNA? - TRANSCRIPTION! DNA
polymerasetakestheindividualnucleotidesand matchesthemto theparentalsequencesto ensurea
correct pair.It must bind with RNA primer to work.
Whatis neededfor DNA replication?- DNA polymerase
Nonsense Mutation
- Change in 1 nucleotide produces a STOP codon Stop= nonsense
becauseit is no
more.
,SilentMutation- Changein 1 nucleotidebut codesfor thesameamino acid.Silent= thechangedoesn't
change thename of theprotein
Missense Mutation
- Change in 1 nucleotide leads to a code for a different aminoMissense
acid. =
mistake was made.
What happends during RNA splicing?
- During RNA splicing introns are cut out, the
remaining
exonsare joined together.
5'ATG AGT CTC TCT 3'
Find theDNA templatestrand.- 3'TAC TCA GAG AGA 5'
The DNA templatestrand iscomplimentary.So startwiththeoppositenumber,thengoL-R with the
complimentaryletter.
5'ATG AGT CTC TCT 3'
Whatis thecorresondingmRNA sequence?- 5'AUG AGU CUC UCU 3'
This sequence is the same as the coding strand except T changes to U because
RNA.itRNA
is
doesn'thaveT.
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
changes
it thenameof the
protein.(look at thechartprovided.)missense= mistake
DNA replicationprocess- DNA ->Transcription-> RNA -> Translation-> Polypeptide
Describe how you would find what ionized Alanine looks -like.
This is an amino acid.Look for the"R"
group.Alanine is a hydrophobicaminoacid thathas CH3. It is a weakinteraction.An ionizedacid will
have a+ or - charge.
Describe what causes the misfolding of protein in Alzheimer's Disease.
- Proteinmisfoldingis causedby
intracellulartanglesand extracellularplaques(senileplaques)causedby abnormal proteinaggregation.
TAU is fibrous material inside cells where the connections are lost. This becomes
defectiveand
formsfilaments intheneuron.
Amyloid-Beta is a large precursor protein in the cell. Excess amyloid
-beta creates senile
plaques.This
starts inthehippocampusand movesup.
Describe the process of neurodegenerative protein aggregation.
- Alzheimer's is themost common
neurodegenerative disease. The formation of aggregated amyloid
-betafibers is another
characterisitc of Alzheimer's. However, neurodegenerationmemory
and loss can be detectedbefore
amyloidfibers accumulate in thebrain.
What are the molecules that help denatured proteins with folding?
- Molecularchaperonesareprotein
helpers.They bind tothenewlymadepolypeptideand enableproperfolding.Properproteinfolding is
, vital b/cproteinsthatdo not fold properlycan