1: Introduction to sudden death (formative answers) Flashcards
1
Q
change in intron sequence affects SPLICING
A
2
Q
3 million polymorphisms on average
A
3
Q
premature stop at exon 2 is definitely going to cause disease because it occurs so early in the protein
A
4
Q
NGS allows you to analyse more genes than conventional sequencing
A
5
Q
to correct QT interval for heart rate
(QT interval) / square root of R-R interval
A
6
Q
torsades de pointes associated with long QT syndrome
A
7
Q
honey-dipped dummies classically cause ring-shaped dental carries
A
8
Q
remember 1st year - VT / VF - broad QRS complexes because beats originate int he ventricles
A
9
Q
RX: long QT syndrome - beta blockers
avoid medication which worsens arrhythmia - antihistamines w/ grapefruit juice
A
10
Q
What is a truncating mutation?
A
Missense mutation which causes a premature stop
