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Y2 random qs > GIM > Flashcards

GIM Flashcards

1
Q

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

A

PGK2

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2
Q

FAP which gene?

A

APC

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3
Q

HNPCC is also known as which syndrome?

A

Lynch

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4
Q

What is the gene for HNPCC?

A

MLH1

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5
Q

What criteria is used for HNPCC?

A

Amsterdam

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6
Q

What syndrome do you get with p53 mutation?

A

Li Fraumeni

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7
Q

What does leptin do?

What is the difference with obese people?

A

Inhibits hunger

Decreased sensitivity

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8
Q

BRCA2 gives a 20x risk for which cancer?

A

Prostate

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9
Q

BRCA1/2 is breast predominantly and which other cancer?

A

Ovarian (mainly BRCA1)

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10
Q

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

A

CYP2D6

Worsens breast cancer survival

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11
Q

What is a CPG island?

What happens when it is methylated?

A

CG clusters around promoter region

Silences whole gene

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12
Q

What is triploidy an example of?

A

Polyploidy

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13
Q

2 in one egg = ?

A

Digyny

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14
Q

2 in one sperm = ?

A

Diplospermy

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15
Q

2 sperms?

A

Dispermy

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16
Q

Name 3 causes of triploidy?

A

Digyny
Dispermy
Diplospermy

17
Q

Diploidy + aneuploidy = ?

A

Mosaicism

18
Q 
What are the following symptoms representative of:
Rockerbottom feet (rounded bottom)
Curled fingers (clenched fist)
A

Edward’s (Trisomy 18)

19
Q

What are the following symptoms representative of:
Polydactyl
Abnormal genitalia

A

Patau (Trisomy 13)

20
Q

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

A 
Turner Syndrome (45X)
- affects females
21
Q

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

A

Klinefelter (47XXY)

- affects males

22
Q

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

A

Waardenburg syndrome

23
Q

What condition is:
Cr11
IGF2

A

Beckwith Wiedemann

24
Q

Beckwitt Wiedemann presents as:

A

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

25
Q

Williams syndrome affects which gene?

How does it present?

A

7q11
Cocktail party speech,
hypercalcaemia
heart defects

26
Q

Di George syndrome affects which gene?

How does it present?

A

22q11 deletion

Learning difficulties, hypocalcaemia

27
Q

Kabuki present with which symptoms?

A

Hearing impairement
cleft palate
persistant finger pads
premature breasts

28
Q

Peutz- Jeghers syndrome causes which GI problem?

Which gene is it involved in?

A

GI polyps- STK11

29
Q

Treacher collins syndrome has a presentation of?

A

Hearing impairment and cleft palate

30
Q 
ApoE is a precursor for Alzeihmers
Rank the following in order of severity?
E2/E2
E4/E3
E4/E4
A

E2/E2
E3/E4
E4/E4

31
Q

Which condition results from an early deposition of drusen?

A

Age related macular degeneration?

32
Q

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

A

Factor H

CFH, ARMS2

33
Q

del of chr15 presents as which two conditions?

Which is due to the del in the father and which the mother?

A

Angel man= mum

Prader- Willi = dad

34
Q

CA125 is a marker for which type of cancer?

A

Ovarian

35
Q

PSA is a marker of which cancer?

A

Prostate

36
Q

hMLH1/2 are markers of which cancers?

A

HNPCC

Endometrial

37
Q

p53 is a marker of which cancers usually?

A

Breast

Sarcomas

38
Q

What does a loss of E-cadherin result in?

A

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

39
Q

What increases your risk of Beckitt-Widerman disease?

A

Wilm’s tumour

Y2 random qs (6 decks)

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