MCAT BIO CH. 4 PART 2 Flashcards
How is sickle-cell anemia caused?
By a mutation in the gene for hemoglobin (Hb)
What does the mutation of sickle-cell anemia cause?
Allows deoxygenated Hb to dimeric and form long chais which distorts the red blood cell shape
What happens to the deformed cells in sickle cell anemia?
Cannot function, destroyed prematurely; leads to anemia
Why is having sickle cell anemia positive?
This is common in area where malaria is prevalent; important benefit
What is the purpose of the 32 bp deletion in gene called CCR5?
Deletion confers HIV resistance to homozygotes and delays AIDS onset in heterozygotes
What is a historical reason of the 32 bp deletion in gene CCR5?
May have conferred resistance to diseases in the past
What are two types of disease causing mutations?
- Inborn errors of metabolism
2. Cancer
What do inborn errors of metabolism includes?
Involve disorders of metabolism
What are most inborn errors of metabolism due to?
Single mutation in a single gene that codes for some sort of metabolic enzyme
What are the symptoms of inborn errors of metabolism caused by?
- Build-up of toxic compound
2. Deficiency of an essential molecule unable to be synthesized
Tumor mutations in cancer are often in…?
Oncogenes and tumor suppressors
What is an oncogene?
A gene that can cause cancer when it is mutated or expressed at high levels
What are tumor suppressors?
Their deletion can cause cancer
What is direct reversal?
A few DNA damage can be reversed
What is photo reactivation?
Enzymes that repair UV-induced pyrimidine photodimers using visible light
What is the most common type of mechanism repair in humans based on direct reversal?
Nucleotide excision repair
If lead unprepared, what can pyrimidine dimers cause?
May lead to melanoma, a type of very dangerous and malignant skin tumor
What is homology-dependent repair pathways?
Using the undamaged complementary information on the other strand to repair the damaged strand
What can homology-dependent repairs be divided in?
- Excision repair
2. Post-replication repair
What does excision repair involve?
Involves removing defective bases nucleotides and replicating them
What does the mismatch repair pathway target?
Targets mismatched bps that were not repaired by DNA poly proofreading during replication
What do bacterias use when needing to know which mispaired base should be fixed?
Genome methylation to help differentiate between the old DNA template stranding the newly synthesized daughter strand
What is methylated and what isn’t, based on genome methylation in bacteria?
Parental bases have methylates bases and new daughter strand doesn’t
What recognization pattern do prokaryotes and eukaryotes use?
- Newly synthesized strand is recognized by the free 3’-terminus on the leading strand
- Gaps b/n Okazaki segments