GIM

Question 1

What’s the name of the intronless gene that remains function less?

Answer 1

PGK2

Question 2

FAP which gene?

Answer 2

APC

Question 3

HNPCC is also known as which syndrome?

Answer 3

Lynch

Question 4

What is the gene for HNPCC?

Answer 4

MLH1

Question 5

What criteria is used for HNPCC?

Answer 5

Amsterdam

Question 6

What syndrome do you get with p53 mutation?

Answer 6

Li Fraumeni

Question 7

What does leptin do?

What is the difference with obese people?

Answer 7

Inhibits hunger

Decreased sensitivity

Question 8

BRCA2 gives a 20x risk for which cancer?

Answer 8

Prostate

Question 9

BRCA1/2 is breast predominantly and which other cancer?

Answer 9

Ovarian (mainly BRCA1)

Question 10

Tamoxifen is normally converted to endoxifen by which enzyme?
In people with a mutation of this, what happens?

Answer 10

CYP2D6

Worsens breast cancer survival

Question 11

What is a CPG island?

What happens when it is methylated?

Answer 11

CG clusters around promoter region

Silences whole gene

Question 12

What is triploidy an example of?

Answer 12

Polyploidy

Question 13

2 in one egg = ?

Answer 13

Digyny

Question 14

2 in one sperm = ?

Answer 14

Diplospermy

Question 15

2 sperms?

Answer 15

Dispermy

Question 16

Name 3 causes of triploidy?

Answer 16

Digyny
Dispermy
Diplospermy

Question 17

Diploidy + aneuploidy = ?

Answer 17

Mosaicism

Question 18

What are the following symptoms representative of:
Rockerbottom feet (rounded bottom)
Curled fingers (clenched fist)

Answer 18

Edward’s (Trisomy 18)

Question 19

What are the following symptoms representative of:
Polydactyl
Abnormal genitalia

Answer 19

Patau (Trisomy 13)

Question 20

What are the following symptoms representative of:
Webbed neck
No puberty
Coarctation of aorta

Answer 20

Turner Syndrome (45X)
- affects females

Question 21

What are the following symptoms representative of:
Lack sexual characteristics - phenotype femaley but male
Long arms and men
Small penis
Gynaecomastia

Answer 21

Klinefelter (47XXY)

- affects males

Question 22

Premature greying
White forelock
Hypopigmented skin
Different coloured irises (heterochromia)

Answer 22

Waardenburg syndrome

Question 23

What condition is:
Cr11
IGF2

Answer 23

Beckwith Wiedemann

Question 24

Beckwitt Wiedemann presents as:

Answer 24

Large tongue
Exomphalos (weakness in front of belly - abdo on outside)
hemi hypertrophy
high risk of wilms tumour

Question 25

Williams syndrome affects which gene? | How does it present?

Answer 25

7q11 Cocktail party speech, hypercalcaemia heart defects

Question 26

Di George syndrome affects which gene? | How does it present?

Answer 26

22q11 deletion | Learning difficulties, hypocalcaemia

Question 27

Kabuki present with which symptoms?

Answer 27

Hearing impairement cleft palate persistant finger pads premature breasts

Question 28

Peutz- Jeghers syndrome causes which GI problem? | Which gene is it involved in?

Answer 28

GI polyps- STK11

Question 29

Treacher collins syndrome has a presentation of?

Answer 29

Hearing impairment and cleft palate

Question 30

``` ApoE is a precursor for Alzeihmers Rank the following in order of severity? E2/E2 E4/E3 E4/E4 ```

Answer 30

E2/E2 E3/E4 E4/E4

Question 31

Which condition results from an early deposition of drusen?

Answer 31

Age related macular degeneration?

Question 32

Which factor and genes are associated with Age related macular degeneration?

Answer 32

Factor H | CFH, ARMS2

Question 33

del of chr15 presents as which two conditions? | Which is due to the del in the father and which the mother?

Answer 33

Angel man= mum | Prader- Willi = dad

Question 34

CA125 is a marker for which type of cancer?

Answer 34

Ovarian

Question 35

PSA is a marker of which cancer?

Answer 35

Prostate

Question 36

hMLH1/2 are markers of which cancers?

Answer 36

HNPCC | Endometrial

Question 37

p53 is a marker of which cancers usually?

Answer 37

Breast | Sarcomas

Question 38

What does a loss of E-cadherin result in?

Answer 38

Loss of adhesion --> cells go from tightly connected to loosely --> epithelial to mesenchymal tissue which can migrate

Question 39

What increases your risk of Beckitt-Widerman disease?

Answer 39

Wilm's tumour