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OITE > Genes > Flashcards

Genes Flashcards

1
Q

PMP22

A

Peripheral myelin protein 22
Duplication on chromosome 17
Charcot Marie tooth disease (autosomal dominant disorder)

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2
Q

Dystrophin absent

A

Duchenne Muscular Dystrophy

X-linked recessive

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3
Q

Dystrophin protein decreased

A

Becker’s muscular dystrophy
Live longer
DC later than duchenne

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4
Q

COL 1A1 or COL 1A2

A

Osteogenesis imperfecta

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5
Q

G380 mutation of FGFR3

A

Achondroplasia

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6
Q

RUNX2 gene

A

Autosomal dominant, cleidocranial dysplasia

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7
Q

Fibrillin gene

A

Marfan syndrome

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8
Q

Mutation cAMP

A

Fibrous dysplasia

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9
Q 
DTDST gene (SLC26A2) 
Sulfate transfer protein
A

Diastrophic Dysplasia

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10
Q

RUNX2/CBFA1 mutation

Autosomal dominant

A

Cleidocranial dysplasia

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11
Q

t(X;18) translocation

Forms the SYT-SSX1 protein

A

Synovial sarcoma

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12
Q

Problem with frataxin a mitochondrial protein

GAA repeat at 9q13

A

Friedreich’s ataxia

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13
Q

Autosomal dominant

Fibrillin-1 (FBN1) gene

A

Marfan syndrome

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14
Q

Autosomal dominant

Fibrillin-1 (FBN1) gene

A

Marfan syndrome

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15
Q

FGFR3

A

Achondroplasia

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16
Q

Type 1 collagen

A

Osteogenesis imperfecta and ED

17
Q

Collagen type 2

A

SED, achondrogenisis. Sticklers syndrome

18
Q

SMN1 Gene mutation

A

Spinal muscular atrophy

19
Q

rhBMP-2 used for?

A

Tibial open tibia fx to accelerate healing, prevent non unions

20
Q 
Geniculate artery supply
ACL
PCL
MCL
LCL
A

ACL/PCL - middle geniculate
MCL - superior/inferior medial geniculate
LCL - same as MCL but lateral side

21
Q

Mechanism of non nitrogen-containing bisphosphonates

A

Produces toxic ATP analog

22
Q

Mechanism of nitrogen-containing bisphosphonates

A

Inhibits farnesyl pyrophosphate synthase (mevalonate pathway)

23
Q

McCune Albright Syndrome is what (3 things)

A

Cafe au lait
Endocrine (precocious puberty)
Unilateral polyostotic fibrous dysplasia

24
Q

Explain fibrous dysplasia genetic pathophysiology

A

alpha GS protein mutation upregulates cAMP

25
Q

Multiple hereditary exostosis gene

A

Mutation in EXT1 gene

26
Q

Neurofibromatosis mutation?

A

NF1 that codes for neurofibromin

27
Q

t(X;18) is from what disease?

A

Synovial sarcoma

28
Q

Hemophillia A is what inheritance pattern?

A

X linked recessive

29
Q

Myxoid liposarcoma gene?

A

t(12:16)

30
Q

Osteosarcoma associated with what gene?

A

p53

OITE (1 decks)

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