GIM Flashcards
What’s the name of the intronless gene that remains function less?
PGK2
FAP which gene?
APC
HNPCC is also known as which syndrome?
Lynch
What is the gene for HNPCC?
MLH1
What criteria is used for HNPCC?
Amsterdam
What syndrome do you get with p53 mutation?
Li Fraumeni
What does leptin do?
What is the difference with obese people?
Inhibits hunger
Decreased sensitivity
BRCA2 gives a 20x risk for which cancer?
Prostate
BRCA1/2 is breast predominantly and which other cancer?
Ovarian (mainly BRCA1)
Tamoxifen is normally converted to endoxifen by which enzyme?
In people with a mutation of this, what happens?
CYP2D6
Worsens breast cancer survival
What is a CPG island?
What happens when it is methylated?
CG clusters around promoter region
Silences whole gene
What is triploidy an example of?
Polyploidy
2 in one egg = ?
Digyny
2 in one sperm = ?
Diplospermy
2 sperms?
Dispermy
Name 3 causes of triploidy?
Digyny
Dispermy
Diplospermy
Diploidy + aneuploidy = ?
Mosaicism
What are the following symptoms representative of: Rockerbottom feet (rounded bottom) Curled fingers (clenched fist)
Edward’s (Trisomy 18)
What are the following symptoms representative of:
Polydactyl
Abnormal genitalia
Patau (Trisomy 13)
What are the following symptoms representative of:
Webbed neck
No puberty
Coarctation of aorta
Turner Syndrome (45X) - affects females
What are the following symptoms representative of:
Lack sexual characteristics - phenotype femaley but male
Long arms and men
Small penis
Gynaecomastia
Klinefelter (47XXY)
- affects males
Premature greying
White forelock
Hypopigmented skin
Different coloured irises (heterochromia)
Waardenburg syndrome
What condition is:
Cr11
IGF2
Beckwith Wiedemann
Beckwitt Wiedemann presents as:
Large tongue
Exomphalos (weakness in front of belly - abdo on outside)
hemi hypertrophy
high risk of wilms tumour
Williams syndrome affects which gene?
How does it present?
7q11
Cocktail party speech,
hypercalcaemia
heart defects
Di George syndrome affects which gene?
How does it present?
22q11 deletion
Learning difficulties, hypocalcaemia
Kabuki present with which symptoms?
Hearing impairement
cleft palate
persistant finger pads
premature breasts
Peutz- Jeghers syndrome causes which GI problem?
Which gene is it involved in?
GI polyps- STK11
Treacher collins syndrome has a presentation of?
Hearing impairment and cleft palate
ApoE is a precursor for Alzeihmers Rank the following in order of severity? E2/E2 E4/E3 E4/E4
E2/E2
E3/E4
E4/E4
Which condition results from an early deposition of drusen?
Age related macular degeneration?
Which factor and genes are associated with Age related macular degeneration?
Factor H
CFH, ARMS2
del of chr15 presents as which two conditions?
Which is due to the del in the father and which the mother?
Angel man= mum
Prader- Willi = dad
CA125 is a marker for which type of cancer?
Ovarian
PSA is a marker of which cancer?
Prostate
hMLH1/2 are markers of which cancers?
HNPCC
Endometrial
p53 is a marker of which cancers usually?
Breast
Sarcomas
What does a loss of E-cadherin result in?
Loss of adhesion –> cells go from tightly connected to loosely –> epithelial to mesenchymal tissue which can migrate
What increases your risk of Beckitt-Widerman disease?
Wilm’s tumour
