Formative Assessment Flashcards
What part of the central dogma is most likely to be affected by loss of an intron?
Splicing
What mutation is most likely to cause long QT syndrome?
A premature stop codon in exon 2 of a gene
What indicates that a variant in a gene is pathogenic?
If the variant is a deletion of a single base of an exon of a gene
Why is next generation sequencing better than conventional sequencing?
It allows more efficient analysis of multiple genes
What is the formula to correct QT interval for heart rate?
(QT interval)/ (Square root of R-R interval)
What arrhythmia are people with long QT most at risk of developing?
Torsades de pointes
What should be done to reduce risk of sudden infant death?
Put babies on their back to go to sleep
What makes ventricular tachycardia obvious on an ECG?
QRS complexes are > 120ms
What clinical signs may be obvious in a patient with sepsis?
Tachypnoea with respiratory rate > 22
What drug is useful in treating long QT syndrome?
Atenolol
Why are mutations that cause a deletion of a basepair likely to be pathogenic?
They cause a frameshift
What is the best first line test for families with a history of heart disease?
Blood cholesterol test
What is an alternative treatment to statins for managing high cholesterol?
PCSK9 inhibitors
Where can you search for known polymorphisms?
GNOMAD
What is the inheritance pattern of hypertrophic cardiomyopathy?
Autosomal dominant
