Formative

Question 1

In the central dogma, which process is likely to be affected whereby there is a mutation in the first base of an intron?

Answer 1

Splicing

The signal as to whether to splice or not is in the first and last 3 bases of an intron

Question 2

What evidence in genetic analysis strongly suggests a pathogenic variant?

Answer 2

Deletion of a single base in an exon of a gene - frameshift mutation
If it affects the whole protein; likely to be a pathogenic mutation

Question 3

Why is next generation sequencing better than conventional sequencing as a test to analyse more than 1 gene?

Answer 3

Allows more efficient analysis of multiple genes

Question 4

How is the QT interval calculation for heart rate?

Answer 4

QT interval / square root R-R interval

Question 5

What cardiac arrhythmia does long QT syndrome predispose to?

Answer 5

Torsades De Pointes

Question 6

What is the most important piece of advice to reduce the risk of SIDS?

Answer 6

Put baby on back to sleep

Question 7

Describe the ecg features of VT?

Answer 7

QRS lasts longer than 120ms

Ectopic ventricular start

Question 8

What is the difference between VT and SVT?

Answer 8

VT; widened QRS

SVT; no p waves, normal QRS complex

Question 9

What is the recommended treatment for long QT syndrome?

Answer 9

Beta Blockers