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CLASP Sudden Death > Genetics > Flashcards

Genetics Flashcards

1
Q

what genes do you analyse in next gen sequencing

A 
only phenotypically relevant ones 
filter out: 
-variations in non relevant genes 
-variations unlikely to affect the gene (keep stops, frame shifts etc) 
-polymorphisms
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2
Q

what is penetrance

A

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

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3
Q

what are mendelian disorders

A

diseases the segregate in families in the manner predicted by mendels laws
(essentially a disease that is caused by a change in a single gene- high penetrance)

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4
Q

how much on genome codes

A

1-2% (sequencing exome only cheaper)

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5
Q

what causes a change to splice site

A

a mutation usually 1 or 2 bases into intron causing splicing error

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6
Q

what do exonic variants have the potential to cause

A

change in amino acid sequence
create stop
cause frame shift
have no effect

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7
Q

what is an intronic variant likely to cause

A

nothing

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8
Q

how do you name mutations

A

Position 1 is the first amino acid of the peptide sequence
stop is a *
e.g. A>T adenine mutated to thymine

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9
Q

what is cDNA

A

the mature mRNA sequence with the introns removed, referenced to the first base of the first codon

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10
Q

what would make you suspicious of a genetic dissecting aortic aneurysm

A

FHx

characteristic features of e.g. marfans

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11
Q

what genes cause marfans

A

fibrillin genes:
SMAD
Tbeta

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12
Q

when is genetic testing worthwhilw in thoracic aortic aneurysms

A

if familial or syndromic

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13
Q

what are features of loeys dietz syndrome

A

tortuous blood vessels
widely spaced eyes
abnormal uvula
TBR1/2 mutation

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14
Q

what causes genetic hypercholesterolaemia

A

LDL (low density lipoprotein) receptor mutation- LDL not internalised by liver to be metabolised

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15
Q

what are the features of familial hypercholesterolaemia

A 
hypercholesterolaemia 
tendon xanthomas
DNA mutation in LDLR, APOB or PCSK9
FHx of premature myocardial infarction (<50 in 2nd degree rel, <60 in 1st) or hypercholesterolaemia 
corneus archus
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16
Q

why is a deletion in an exon likely to be pathogenic

A

as will cause frameshift

17
Q

in pedigrees are men square or round

A

men square

women round

18
Q

for a disease that is AD inheritance, why might only 1 family member be affected

A

variable penetrance
other family members may be asymptomatic/ not diagnosed yet
novel mutation

19
Q

what tests for long QT syndrome

A

ECG- as highly variable, need to do repeated ones
stress/ exercise ECGs
ambulatory ECGs
genetic testing

20
Q

what is the management for long QT syndrome

A

beta blockers
ICD
avoid clarirthromycin and other QT prolonging drugs

21
Q

who is shaded in a family tree

A

those affected by the gene/ disease

22
Q

what is the most common mode of inheritance for heart disease

A

multifactoral

23
Q

what is the chance of being affected by an autosomal dominant condition if parent affected

A

50%

24
Q

what is the best test for familial hypercholesterolaemia

A

cholesterol blood test

25
Q

should you treat children with family hypercholesterolaemia with statins

A

yes from the age of 10

26
Q

what are the SEs of statins

A

muscle pain and weakness

nausea, diarrhoea, GI discomfort

27
Q

what is a new treatment for hypercholesterolaemia

A

anti PCSK9 therapy

28
Q

what bioinformatic information can help decide the importance of a variant

A

allele frequency
importance of the gene its in
comparison to other animals and humans

29
Q

what the best test to determine risk of HCM

A

echo

if they have HCM can then look for genetic cause

30
Q

what is brugada syndrome

A

intermittent disorder of cardiac depolarisation causing arrhythmia
ecg- ST elevation, broad QRS
patient will be young, look grey and have sense of impending doom

31
Q

what can be given to diagnose brugada syndrome

A

give flecanide and do ECG- will stimulate arrhythmia

32
Q

why do you get broad QRSs in VT

A

as conduction not through bundle of his so slower

33
Q

what is the immediate Tx for VT

A

cardioversion

34
Q

what is the treatment for torsades de pointes in LQTS

A

cardiovert
beta blockers
ICD

correct electrolyte abnormalities (hypokalaemia/ magnesaemia/ calcaemia)
avoid swimming - dangerous
environment
beta blockers
ICD (high morbility)
loud noises - alarm clock in morning

hard to manage
?anti-arrhythmic drugs : quinidine, flecainide
ICD hard with children as increased body use, pyschological issues and inappropriate discharges due to T wave oversensing

35
Q

why are MIs more likely when its cold

A

vasoconstriction

CLASP Sudden Death (6 decks)

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