Flashcards in Week 9 - MGD Deck (53):
What is exon skipping?
Form of RNA splicing that “skips” over faulty or misaligned sections of genetic code, leading to a truncated but still functional protein
What is an effector molecule?
A molecule that binds to a protein and regulates its activity
Disassociation of hemoglobin into subunits ___ affinity for oxygen.
Which type of protein on the cell surface of erythrocytes determine the ABO blood group antigens?
The ABO blood group antigens show what pattern of inheritance?
In which 2 locations is hemoglobin produced at week 30 in PRENATAL age?
What is atheroma?
Fatty material which forms deposits in the arteries
What type of cells secrete collagen?
Penicillin only affects ___ bacteria.
Why doesn’t sickle cell anemia manifest until 6 months of age?
HbF has two alpha and two GAMMA subunits while HbS only affects beta subunits
List 2 differences between a competitive and non-competitive enzyme inhibitor.
Competitive: binds to active size, affects Km
Non-competitive: binds somewhere other than active site, affects Vmax
List 2 functions of the MUST tool.
1. Screen for adults who are at risk of malnutrition
2. Help develop a care plan
A competitive enzyme inhibitor affects the ___.
What are the 3 layers of the meninges?
Remember: from inside to outside, the meninges PAD the CNS
A left shift in the hemoglobin dissociation curve indicates a(n) ___ affinity for oxygen.
Cytokines are endogenous pyrogens. They trigger the release of ___, which act on the hypothalamus to raise body temperature.
List the 2 most common signs and/or symptoms of phosphofructokinase deficiency.
1. Muscle cramps
2. Muscle pain
A right shift in the hemoglobin dissociation curve indicates a(n) ___ affinity for oxygen.
Where is hemoglobin produced at week 10 in POSTNATAL age?
Which 2 variables do the axes of the hemoglobin dissociation curve plot?
1. X-axis: pressure of oxygen in the blood
2. Y-axis: % of hemoglobin bonded to oxygen
Describe why patients with sickle cell anemia have deformed red blood cells.
Replacement of Hb with HbS causes polymerisation of cells in the T state
A non-competitive enzyme inhibitor affects the ___.
Which protein can be a marker for myocardial infarction?
Penicillin is most commonly prescribed for ___ infections such at UTIs and URTIs.
Amniocentesis carries ___ risk than chorionic villus sampling.
What would be the genotype of someone with sickle cell anemia?
List 5 hormones that stimulate erythrocyte production.
Remember: EEGILS draw blood
The substrate concentration that will give half the maximum rate
Which test is most likely to detect a metabolic disorder?
Heel prick test
A mother who is a carrier for an x-linked recessive disorder marries a non-carrier. What is the chance that her child will be affected by the disorder? (Note: sex of child is unknown.)
List 4 factors that decrease hemoglobin’s affinity for oxygen (i.e., right shift).
1. Increased CO2
2. Increased H+
3. Increased 2-3 DPG
4. Increased temperature
Remember: Isabel Chang Has 2 Tits
Why in meningitis (inflammation of the meninges) dangerous?
Risk of transmitting the infection to the CNS, hindering its function
Which fetal DNA screening technique for Duchenne muscular dystrophy (DMD) can be offered the soonest?
Chorionic villus sampling
List 3 allosteric activators of phosphofructokinase.
What is the inheritance pattern for Huntington’s disease?
Where is hemoglobin produced at week 10 in PRENATAL age?
List 4 factors that increase hemoglobin’s affinity for oxygen (i.e., left shift).
1. Decreased CO2
2. Decreased H+
3. Decreased 2-3 DPG
4. Decreased temperature
Remember: Drew Carey Has 2 Testicles
Autosomal recessive diseases commonly ___ generations.
What is the inheritance pattern for hemophilia?
Remember: Ryan White was male with unaffected parents
Which fetal DNA screening technique for Duchenne muscular dystrophy (DMD) carries the lowest risk?
Chronic myelogenous leukemia is caused by a genetic abnormality called the Philadelphia chromosome: a shortened chromosome 22 that has undergone ___ with chromosome 9.
What are the 2 phases of drug metabolism?
1. Phase I – Modification
2. Phase II – Conjugation
What is allosteric regulation?
Regulation of an enzyme by binding of an effector molecule at a site other than the active site
Microtubules comprising cilia are arranged in a ___ configuration.
The maximum rate obtainable when all active sites are filled with substrate
What is the inheritance pattern for Duchenne muscular dystrophy (DMD)?
As the RATE increases, the enzyme concentration ___.
Mitochondrial DNA is inherited only from the ___.
What type of enzyme inhibitor binds to the active site?
What type of enzyme inhibitor binds to a site other than the active site?
Describe the development of atheroma.
Oxidised LDL cholesterol accumulates in an arterial wall->
Macrophages attempt to digest the cholesterol ->
Macrophages transform into foam cells ->
Foam cells degenerate and form a soft plaque ->
Calcium salts and fibrous tissue accumulate to harden the plaque
What is the inheritance pattern for sickle cell anemia?