Genetics and Sudden Death Flashcards

1
Q

what does penetrance mean?

A

the likelihood of having a disease if you have the gene mutation

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2
Q

mendelian diseases tend to be caused by a change in multiple/a single gene(s)

A

single gene

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3
Q

what test is good for checking more than 1 gene

A

NGS

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4
Q

any genetic change you see may be 3 things, what are they?

A

disease causing mutation
polymorphism
variant of unknown significance

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5
Q

what is an exome?

A

all the parts of the genome that contain genetic information

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6
Q

what happens at the promotor

A

proteins bind to it to promote transcription

“the on switch”

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7
Q

what is splicing?

A

the removal of introns to allow exons to join together to produce mature mRNA

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8
Q

which amino acid is always the first produced by mRNA?

A

methionine (AUG codon)

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9
Q

what is cDNA?

A

the mature mRNA sequence with the introns removed

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10
Q

what can help you narrow down the cause of a disorder if you have multiple potential mutations to look at?

A

the patient’s phenotype eg:

no point looking at potential mutations causing long qt if the patient is showing symptoms of a cardiomyopathy

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11
Q

inheritance of aortic dissection?

A

AD

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12
Q

what condition is caused by a mutation in the fibrillin 1 gene

A

marfans

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