Genetics 3

Question 1

Key clinical features of FAP?

Answer 1

CARPET of adenoma polyps
Jaw Cysts
CHRPE = chronic hypertrophy of Retinal Pigment

+ Desmoid tumors ( Fibroblasts tumor)

Question 2

Difference between FAP and MUTYH associated Polyposis?

Answer 2

MUTYH = less polyps, NO DESMOID tumors

Question 3

Alpha 1 anti-trypsin deficiency inheritance?

Answer 3

Co-dominant trait

Question 4

siRNA function?

Answer 4

induce gene silencing via

• mRNA degradation
• translational inhibition
• promoter silencing

Question 5

Difference between SCA and Fredrich Ataxia?

Answer 5

Fredrich ataxia = have accompanying cardiomyopathy

SCA = subtype 3 most common =
severe ataxia and dysarthria + cerebellar syndrome facial dystonia + opthalmoparesis ( vertical gaze palsy )/ oculomotor

Question 6

lymphangioleiomyomatosis - mutation what gene?

Answer 6

TSC1 and 2 - screw up the mTOR signaling

Question 7

Angelman syndrome - what mutation?

Answer 7

Loss of 2 copies of maternal UBE3A gene

Question 8

What type of Down’s syndrome pathogenesis is not affected by maternal age?

Answer 8

Translocation ( de Novo) aka familial Down syndrome

Question 9

Epigenetics means?

Answer 9

Alterations in gene expression NOT CAUSED by DNA sequence changes

• DNA methylation/demethylation - cytosine base
• Chromatin modification by microRNAs

Question 10

Pleiotrophy means?

Answer 10

Single gene mutation but causes so many different phenotypes of that fucking mutation