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Flashcards in Week 9 - MGD Deck (53):
1

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

2

What is an effector molecule?

A molecule that binds to a protein and regulates its activity

3

Disassociation of hemoglobin into subunits ___ affinity for oxygen.

Increases

4

Which type of protein on the cell surface of erythrocytes determine the ABO blood group antigens?

Glycoproteins

5

The ABO blood group antigens show what pattern of inheritance?

Co-dominance

6

In which 2 locations is hemoglobin produced at week 30 in PRENATAL age?

1. Spleen
2. Liver

7

What is atheroma?

Fatty material which forms deposits in the arteries

8

What type of cells secrete collagen?

Fibroblasts

9

Penicillin only affects ___ bacteria.

Gram-positive

10

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

11

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

12

List 2 functions of the MUST tool.

1. Screen for adults who are at risk of malnutrition
2. Help develop a care plan

13

A competitive enzyme inhibitor affects the ___.

Km

14

What are the 3 layers of the meninges?

1. Dura
2. Arachnoid
3. Pia

Remember: from inside to outside, the meninges PAD the CNS

15

A left shift in the hemoglobin dissociation curve indicates a(n) ___ affinity for oxygen.

Increased

16

Cytokines are endogenous pyrogens. They trigger the release of ___, which act on the hypothalamus to raise body temperature.

Prostaglandins

17

List the 2 most common signs and/or symptoms of phosphofructokinase deficiency.

1. Muscle cramps
2. Muscle pain

18

A right shift in the hemoglobin dissociation curve indicates a(n) ___ affinity for oxygen.

Decreased

19

Where is hemoglobin produced at week 10 in POSTNATAL age?

Bone marrow

20

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

21

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

22

A non-competitive enzyme inhibitor affects the ___.

Vmax

23

Which protein can be a marker for myocardial infarction?

Troponin

24

Penicillin is most commonly prescribed for ___ infections such at UTIs and URTIs.

Bacterial

25

Amniocentesis carries ___ risk than chorionic villus sampling.

Less

26

What would be the genotype of someone with sickle cell anemia?

HbSS

27

List 5 hormones that stimulate erythrocyte production.

1. erythroid
2. EPO
3. GM-CSF
4. IL-3
5. SCF
Remember: EEGILS draw blood

28

Define Km.

The substrate concentration that will give half the maximum rate

29

Which test is most likely to detect a metabolic disorder?

Heel prick test

30

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.)

25%

31

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

32

Why in meningitis (inflammation of the meninges) dangerous?

Risk of transmitting the infection to the CNS, hindering its function

33

Which fetal DNA screening technique for Duchenne muscular dystrophy (DMD) can be offered the soonest?

Chorionic villus sampling

34

List 3 allosteric activators of phosphofructokinase.

1. fructose-2,6-biphosphonate
2. ADP
3. AMP

35

What is the inheritance pattern for Huntington’s disease?

Autosomal dominant

36

Where is hemoglobin produced at week 10 in PRENATAL age?

Liver

37

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

38

Autosomal recessive diseases commonly ___ generations.

Skip

39

What is the inheritance pattern for hemophilia?

X-lined recessive
Remember: Ryan White was male with unaffected parents

40

Which fetal DNA screening technique for Duchenne muscular dystrophy (DMD) carries the lowest risk?

Amniocentesis

41

Chronic myelogenous leukemia is caused by a genetic abnormality called the Philadelphia chromosome: a shortened chromosome 22 that has undergone ___ with chromosome 9.

Reciprocal translocation

42

What are the 2 phases of drug metabolism?

1. Phase I – Modification
2. Phase II – Conjugation

43

What is allosteric regulation?

Regulation of an enzyme by binding of an effector molecule at a site other than the active site

44

Microtubules comprising cilia are arranged in a ___ configuration.

9+2

45

Define Vmax.

The maximum rate obtainable when all active sites are filled with substrate

46

What is the inheritance pattern for Duchenne muscular dystrophy (DMD)?

X-linked recessive

47

As the RATE increases, the enzyme concentration ___.

Increases

48

Mitochondrial DNA is inherited only from the ___.

Mother

49

What type of enzyme inhibitor binds to the active site?

Competitive

50

What type of enzyme inhibitor binds to a site other than the active site?

Non-competitive

51

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

52

What is the inheritance pattern for sickle cell anemia?

Autosomal recessive

53

Which 2 chromosomes do globin genes cluster on?

1. 11
2. 16