Genetics and Sudden Death Flashcards
what does penetrance mean?
the likelihood of having a disease if you have the gene mutation
mendelian diseases tend to be caused by a change in multiple/a single gene(s)
single gene
what test is good for checking more than 1 gene
NGS
any genetic change you see may be 3 things, what are they?
disease causing mutation
polymorphism
variant of unknown significance
what is an exome?
all the parts of the genome that contain genetic information
what happens at the promotor
proteins bind to it to promote transcription
“the on switch”
what is splicing?
the removal of introns to allow exons to join together to produce mature mRNA
which amino acid is always the first produced by mRNA?
methionine (AUG codon)
what is cDNA?
the mature mRNA sequence with the introns removed
what can help you narrow down the cause of a disorder if you have multiple potential mutations to look at?
the patient’s phenotype eg:
no point looking at potential mutations causing long qt if the patient is showing symptoms of a cardiomyopathy
inheritance of aortic dissection?
AD
what condition is caused by a mutation in the fibrillin 1 gene
marfans
