Flashcards in Vignettes, DNA DS breaks and Next Gen Deck (23):
In Crohn's disease, hematochezia is ___________ whereas, in ulcerative colitis, hematochezia is _________
The origin of Crohn's disease is in the ___________, whereas the origin of ulcerative colitis is in the __________
____________ is normally located in the upper GI tract, whereas ____________ is not.
Crohn's disease, ulcerative colitis
In both Crohn's and ulcerative colitis, _____________ are common
Extra GI manifestations
In Crohn's disease, fistulas are ___________ whereas they are ___________ in ulcerative colitis.
In Crohn's disease, the inflammation is ___________, whereas in ulcerative colitis, the inflammation is ___________
Crohn's disease and ulcerative colitis are both subcategories of _____________
Inflammatory Bowel Disease
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
What affects single nucleotide variants sequencing?
1. Coverage 2. Error rates 3. Ploidy
Miller syndrome patients have similar mutations as those with ____________
_________ de novo mutations are created each generation.
90% of mutations are ________ derived
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
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
In both the normal and abnormal prion forms, the ___________ is identical
Covalent structure/ amino acid structure
What are the two types prion strains?
Hyper and Drowsy
In Alzheimer's, amyloid plagues are formed by __________
Amyloid Beta 42
Cleavage of the Amyloid precursor protein, first by _________ and then by ________ yields _________ and ___________
Beta secretase, Gamma secretase, Amyloid beta 40 and Amyloid beta 42
Apo E is an allele important in ______________ and gets rid of __________
Cholesterol; Amylase Beta 42
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
Dominant inherited AD is caused by ___________ mutations in __________ and ___________ genes
Missense; presenilin 1; presenilin2
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