Vignettes, DNA DS breaks and Next Gen Flashcards Preview

Molecules to Medicine Unit 1 > Vignettes, DNA DS breaks and Next Gen > Flashcards

Flashcards in Vignettes, DNA DS breaks and Next Gen Deck (23):
1

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

Rare; Common

2

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

Ileum, rectum

3

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

Crohn's disease, ulcerative colitis

4

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

Extra GI manifestations

5

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

Common, rare

6

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

Transmural, Mucosal

7

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

Inflammatory Bowel Disease

8

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

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

9

What affects single nucleotide variants sequencing?

1. Coverage 2. Error rates 3. Ploidy

10

Miller syndrome patients have similar mutations as those with ____________

Methotrexate exposure

11

_________ de novo mutations are created each generation.

60

12

90% of mutations are ________ derived

Paternally

13

What occurs in nano pore measurement?

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

14

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

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

15

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

Covalent structure/ amino acid structure

16

What are the two types prion strains?

Hyper and Drowsy

17

In Alzheimer's, amyloid plagues are formed by __________

Amyloid Beta 42

18

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

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

19

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

Cholesterol; Amylase Beta 42

20

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

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

21

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

Missense; presenilin 1; presenilin2

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?

Beta amyloid precursor protein mutations on Chromosome 21

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?

Block/ Impair beta-secretase activity