formative Flashcards
In the central dogma, which process is most likely to be affected by a mutation that changes the first base in an intron ?
splicing
Jane Green is a 27-year old woman with long QT syndrome diagnosed on ECG. Next generation sequencing is used to analyse 6 genes that might be responsible. Several genetic variants are identified in these genes.
Which type of genetic sequence variant is the one most likely to cause the long QT syndrome ?
a premature stop codon in exon 2 on a gene
–> make the biggest difference - v pathogenic
(missense variant in exon 3 of a gene -> doesnt always change it (redundacy i think?)
woman with long QT syndrome diagnosed on ECG. Next generation sequencing is used to analyse 6 genes that might be responsible. A genetic variant is identified in the LQT1 gene.
Which piece of evidence would most strongly suggest that this variant is pathogenic ?
The variant is a deletion of a single base in an exon of the gene
-> frameshift mutation
James Black is a 31 year old man with Hypertrophic Cardiomyopathy.
Why is Next Generation Sequencing (NGS) better than conventional sequencing as a test to analyse the 8 genes that might be responsible ?
It allows more efficient analysis of multiple genes
-> does genes faster + cheaper
how do you correct the QT interval for heart rate ?
(QT Interval) / (Square root R-R interval)
-> as QT shortens, HR increases
Aileen White has long QT syndrome.
Which cardiac arrhythmia is she most at risk of ?
Torsades de Pointes
- delayed cardiac repolarisation
Mr and Mrs Blue have a newborn baby.
What is the most important piece of advice that will reduce the risk of sudden infant death ?
To put them to sleep on their back
Which of the following drugs may be helpful in treating a patient with long QT syndrome
atenolol (avoid sotalol)