Genetics

Question 1

In the central dogma, which process is most likely to be affected by a mutation that changes the first base in an intron?

Answer 1

Splicing

Question 2

Which type of genetic sequence variant is the one most likely to cause the long QT syndrome?

Answer 2

A premature stop codon in the exon 2 of a gene

Question 3

Why is next generation sequencing better than conventional sequencing as a test to analyse the 8 genes that might be responsible for hypertrophic cardiomyopathy?

Answer 3

It allows more efficient analysis of multiple genes

Question 4

What are mendelian disorders?

Answer 4

Disease that segregate in families in the manner predicted by mendels law. Essentially a disease that is predominantly caused by a change in a single gene

Question 5

What is a variation / variant?

Answer 5

Any change in DNA sequence. It could be described as pathogenic or benign

Question 6

What is a polymorphism?

Answer 6

A variant that is prevalent in the general population. Often used to imply ‘benign’. It may have a low penetrance effect on common disease