General + introduction

Question 1

What is the central dogma

Answer 1

explains flow of genetic information from DNA –> RNA –> functional protein

Question 2

what are exons

Answer 2

protein coding regions of DNA in a gene

Question 3

what are introns

Answer 3

non-protein coding regions of DNA in a gene

Question 4

What does splicing depend on

Answer 4

depends on the bases just before and after an exon ie in the intron

Question 5

does a mutation in an intron cause any harmful effect

Answer 5

no, introns are non-coding

Question 6

when trying to identify a pathological mutation, what should you look for

Answer 6

the mutation that causes the biggest dysfunction of protein

Question 7

which is better, next generation sequencing or conventional sequencing

Answer 7

NGS
bigger and better
can analyse more genes

Question 8

how do you calculate the QT interval

Answer 8

square root of R-R

Question 9

what intervention should be done to prevent sudden deaths in infants

Answer 9

babies should sleep on their backs

Question 10

what is mutation penetrance

Answer 10

likelihood of having a disease if you have the gene