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Genetics Flashcards

(9 cards)

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1
Q

Genes of long QT syndrome

A

KNCQ1
KCNH2

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2
Q

Genes of short QT syndrome

A

KCNQ1
KCNH2

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3
Q

Genes of brugada syndrom

A

SCN5A
SCN1b

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4
Q

Genes of CPVT

A

RYR2
CASQ2

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5
Q

Protein and genes of HCM

A

Sarcomeric proteins:
- Myosin binding protein-C (MYBP-C)
- Beta-myosins heavy chain (B-MHC)
- Troponin T
- Alpha tropomyosin

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6
Q

Protein and genes in DCM

A

Cytoskeleton, sarcolemma, nuclear envelope

TTN
LMNA
MYH7

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7
Q

Protein and genes in arrhythmogenic CMP

A

Desmosomal proteins:
- Plakoglobin
- Desmoplakin

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8
Q

3 syndromes with aortic dissection, with genes

A

Marfan:
FBN1

Loeys-Dietz:
TGFBR1 or 2

Ehlers-Danlos:
COL3A1

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9
Q
A
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