Vignettes, DNA DS breaks and Next Gen

Question 1

In Crohn’s disease, hematochezia is ___________ whereas, in ulcerative colitis, hematochezia is _________

Answer 1

Rare; Common

Question 2

The origin of Crohn’s disease is in the ___________, whereas the origin of ulcerative colitis is in the __________

Answer 2

Ileum, rectum

Question 3

____________ is normally located in the upper GI tract, whereas ____________ is not.

Answer 3

Crohn’s disease, ulcerative colitis

Question 4

In both Crohn’s and ulcerative colitis, _____________ are common

Answer 4

Extra GI manifestations

Question 5

In Crohn’s disease, fistulas are ___________ whereas they are ___________ in ulcerative colitis.

Answer 5

Common, rare

Question 6

In Crohn’s disease, the inflammation is ___________, whereas in ulcerative colitis, the inflammation is ___________

Answer 6

Transmural, Mucosal

Question 7

Crohn’s disease and ulcerative colitis are both subcategories of _____________

Answer 7

Inflammatory Bowel Disease

Question 8

What is the downside of next generation sequencing compared to microarrays?

Answer 8

Next generation needs high coverage to quantitate abundance transcripts/ need to sequence through high abundance to see low abundance

Question 9

What affects single nucleotide variants sequencing?

Answer 9

1. Coverage 2. Error rates 3. Ploidy

Question 10

Miller syndrome patients have similar mutations as those with ____________

Answer 10

Methotrexate exposure

Question 11

_________ de novo mutations are created each generation.

Answer 11

60

Question 12

90% of mutations are ________ derived

Answer 12

Paternally

Question 13

What occurs in nano pore measurement?

Answer 13

A current passes through a pore and we see different read-outs when it comes across a certain base

Question 14

What are the main differences between the abnormal and normal prions?

Answer 14

1. The alpha helix changes to beta sheet content 2. The beta sheets aggregate 3. Insoluble

Question 15

In both the normal and abnormal prion forms, the ___________ is identical

Answer 15

Covalent structure/ amino acid structure

Question 16

What are the two types prion strains?

Answer 16

Hyper and Drowsy

Question 17

In Alzheimer’s, amyloid plagues are formed by __________

Answer 17

Amyloid Beta 42

Question 18

Cleavage of the Amyloid precursor protein, first by _________ and then by ________ yields _________ and ___________

Answer 18

Beta secretase, Gamma secretase, Amyloid beta 40 and Amyloid beta 42

Question 19

Apo E is an allele important in ______________ and gets rid of __________

Answer 19

Cholesterol; Amylase Beta 42

Question 20

What are the four gene defects that predispose to Alzheimer’s Disease?

Answer 20

1. Beta-Amyloid precursor protein mutations on Chromosome 21 2. Apolipoprotein E4 polymorphism on chromosome 19 3. Presenilin 1 mutation 4. Presenilin 2 mutations

Question 21

Dominant inherited AD is caused by ___________ mutations in __________ and ___________ genes

Answer 21

Missense; presenilin 1; presenilin2

Question 22

Four genetic factors have been identified that predispose to Alzheimer’s disease by affecting the beta-amyloid phenotype. Which of these mutation acts by increasing production of all beta amyloid proteins?

Answer 22

Beta amyloid precursor protein mutations on Chromosome 21

Question 23

Which of the following therapeutic approaches to prevent the onset of ALzheimer’s disease is likely to have the least potential for deleterious effects?

Answer 23

Block/ Impair beta-secretase activity