Clinical Sciences

Question 1

X-linked recessive inheritance who is affected?

Answer 1

Males

Question 2

Who transmits x-linked recessive disorders?

Answer 2

Heterozygote female carriers

Question 3

What does the golgi add to proteins for trafficking to lysosomes?

Answer 3

Mannose-6-phosphate

Question 4

What kind of disease is Gaucher’s?

Answer 4

Lysosomal storage disease

Question 5

Enzyme replacement therapy for Gaucher’s?

Answer 5

IV Taliglucerase alfa

Question 6

Function of RER?

Answer 6

1. Translation and folding of new proteins
2. Manufacture of lysosomal enzymes
3. Site of N-glycosylation
4. Examples of cells with extensive RER include pancreatic cells, goblet cells, plasma cells

Question 7

Function of SER?

Answer 7

1. Steroids, lipid synthesis

2. Examples of cells with extensive SER include those of the adrenal cortex, hepatocytes, testes, ovaries

Question 8

Function of Golgi apparatus?

Answer 8

1. Modifies, sorts and packages molecules that are destined for cell secretion
2. Addition of mannose-6-phosphate to proteins designates transport to lysosome

Question 9

Function of mitochondrion?

Answer 9

Aerobic respiration, contains mitochondrial genome as circular DNA

Question 10

Function of nucleus?

Answer 10

DNA maintenance and RNA transcription

Question 11

Function of lysosome?

Answer 11

Breakdown of large molecules such as proteins and polysaccharides

Question 12

Function of nucleolus?

Answer 12

Ribosome production

Question 13

Function of ribosome?

Answer 13

Translation of RNA into proteins

Question 14

Function of peroxisome?

Answer 14

Catabolism of very long chain fatty acids and amino acids, results in the formation of hydrogen peroxide

Question 15

Function of proteasome?

Answer 15

Along with the lysosomal pathway is involved in the degradation of protein molecules that have been tagged with ubiquitin

Question 16

Which phase of the cell cycle determines cell cycle length?

Answer 16

G1 phase

Question 17

Which phase of the cell cycle is influenced by p53?

Answer 17

G1

Question 18

What is the cell cycle regulated by?

Answer 18

Proteins called cyclins which in turn control cyclin-dependent kinase enzymes

Question 19

What is G0?

Answer 19

‘Resting’ phase, quiescent cells such as hepatocytes and more permanently resting cells such as neurones

Question 20

What is G1?

Answer 20

1. Gap 1, cells increase in size
2. Determines length of cell cycle
3. Under influence of p53

Question 21

Regulatory proteins of G1?

Answer 21

1. Cyclin D/CDK4
2. Cyclin D/CDK6
3. Cyclin E/CDK2 - regulates transition from G1 to S phase

Question 22

What is S phase?

Answer 22

1. Synthesis of DNA, RNA and histones

2. Centrosome duplication

Question 23

Regulatory proteins of S phase?

Answer 23

Cyclin A/CDK2 - active in S phase

Question 24

What is G2?

Answer 24

Cells continue to increase in size

Question 25

Regulatory proteins of G2?

Answer 25

Cyclin B/CDK1 - regulates transition from G2 to M phase

Question 26

What is M?

Answer 26

Mitosis, nuclear division, shortest phase of the cell cycle

Question 27

What can funnel plots be used for?

Answer 27

To show publication bias in meta-analyses

Question 28

How are funnel plots drawn?

Answer 28

Treatment effects on the horizontal axis and study size on the vertical axis

Question 29

How does one interpret a funnel plot?

Answer 29

1. A symmetrical, inverted funnel shape indicates that publication bias is unlikely 2. An asymmetric funnel indicates a relationship between treatment effect and study size. This indicates either publication bias or a systematic difference between smaller and larger studies (small study effects)

Question 30

What does a box and whisker plot show?

Answer 30

Graphical depiction of dataset quartiles, median and variability outside the upper and lower quartiles

Question 31

What is a chi squared test for?

Answer 31

To determine if two independent groups differ from each other, it evaluates binary outcomes

Question 32

What is a Kruskal-Wallis test?

Answer 32

A non-parametric test which compares the means of two or more independent groups

Question 33

What is per-protocol analysis?

Answer 33

1. Usually used to attempt to determine if a treatment has a biological effect 2. It involves removal of participants from the data in a study who do not meet all the requirements of the protocol criteria for the study

Question 34

2 types of cell division?

Answer 34

Mitosis and meiosis

Question 35

Mitosis mushkies?

Answer 35

1. Occurs in somatic cells 2. Results in 2 diploid daughter cells 3. Daughter cells are genetically identical to parent cell

Question 36

Meiosis mushkies?

Answer 36

1. Occurs in gametes 2. Results in 4 haploid daughter cells 3. Daughter cells contain one homologue of each chromosome pair and are therefore genetically different

Question 37

What is a haploid cell?

Answer 37

Only have a single copy of each chromosome, e.g. gametes (ova and spermatozoa)

Question 38

Phases of mitosis?

Answer 38

1. Prophase 2. Prometaphase 3. Metaphase 4. Anaphase 5. Telophase 6. Cytokinesis

Question 39

Prophase?

Answer 39

Chromatin in the nucleus condenses

Question 40

Prometaphase?

Answer 40

Nuclear membrane breaks down allowing the microtubules to attach to the chromosomes

Question 41

Metaphase?

Answer 41

Chromosomes aligned at middle of the cell

Question 42

Anaphase?

Answer 42

Paired chromosomes separate at the kinetochores and move to the opposite sides of the cell

Question 43

Telophase?

Answer 43

Chromatids arrive at opposite poles of the cell

Question 44

Cytokinesis?

Answer 44

Actin-myosin complex in the centre of the cell contacts resulting in it being \pinched' into two daughter cells