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OITE > Path - Genes > Flashcards

Path - Genes Flashcards

1
Q

p53

A

Osteosarcoma

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2
Q

t(12:16)

A

Myxoid liposarcoma

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3
Q

t(X:18)

A

Synovial sarcoma

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4
Q

t(11:22)

A

Ewing’s sarcoma

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5
Q

t(2:13)

A

Rhabdomyosarcoma

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6
Q

t(12:22)

A

Clear cell sarcoma

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7
Q

t(9:22)

A

Chondrosarcoma(myxoid variant)

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8
Q

FGFR-3

A

Achondroplasia

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9
Q

FGFR-2

A

Apert Syndrome

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10
Q

PMP22

A

CMT (80-90%)

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11
Q

COMP

A

Pseudoachondroplasia

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12
Q

COL2A1

A

SED congenita/tarda

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13
Q

Type II collagen

A

Kniest’s syndrome

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14
Q

FGFR-3 mutation effect

A

inhibition of chondrocytes proliferation

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15
Q

COMP

A

MED - Type 1

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16
Q

Type IX collagen

A

MED - Type 2

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17
Q

PTHrP

A

Jansen’s metaphyseal chondroplasia

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18
Q

Type X Collagen

A

Schmid’s metaphyseal chondroplasia

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19
Q

CBFA-1 / RUNX2

A

Cleidocranial dysplasia

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20
Q

COL1A1/COL1A2

A

Osteogenesis Imperfecta

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21
Q

DTD (sulfate transport)

A

Diastrophic dysplasia

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22
Q

Frataxin

A

Friedreich’s Ataxia

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23
Q

connexin

A

CMT (10-20%)

24
Q

X-linked Recessive Diseases

A

Duchenne/Becker
Hunter’s
Hemophila
SED Tarda

25
Q

Autosomal Recessive

A 
Diastrophic Dysplasia
Friedreich's Ataxia
Gauchr's
SMA
Sickle cell
OI (type II and III)
Hypophosphatasia
Osteopeterosis
26
Q

FGFR-2 mutation effect

A

inhibition of chondrocytes proliferation

27
Q

PMP22 mutation effect

A

Nerve demyelination

28
Q

COMP mutation effect

A

Abnormal cartilage formation - pseudoachondroplasia.

Type II collagen - MED - Type I

29
Q

COL2A1 / Type II collagen mutation effect

A

Defect in cartilage matrix formation

30
Q

PTHrP mutation effect

A

Functional defect in parathyroid hormone

31
Q

Type X collagen mutation effect

A

Defect in cartilage matrix formation

32
Q

CBFA-1 / RunX2 mutation effect

A

Impaired intramembranous ossification

33
Q

COL1A1 / COL1A2 mutation effect

A

Type I collagen affected

34
Q

DTD (sulfate transport protein) mutation effect

A

Defect in sulfaction of proteoglycan

35
Q

Connexin gene mutation effect

A

Nerve demyelination

36
Q

Gene associated with t(11:22) translocation

A

Fusion protein (EWS-FLI1)

37
Q

Gene associated with t (2:13) translocation

A

Pax3-FKHR

38
Q

Gene associated with t (12:16) translocation

A

TLS-CHOP

39
Q

Gene associated with t (X:18) translocation

A

SYT-SSX1,2, or 4 fusion protein

40
Q

Gene associated with t (12:22) translocation

A

Fusion protein EWS-ATF1

41
Q

Gene associated with t (9:22) translocation

A

Fusion protein EWS-CHN)

42
Q

Low Phos
High Alk Phos
Normal PTH
Normal Vitamin D

A

Vitamin D resistent Rickets

Hypophosphatemic

43
Q 
Low Calcium
Low Phos
High Alk Phos
High PTH
Low Vit D
A

Vitamin D Deficient Rickets

Nutritional

44
Q 
Low Ca
Low Phos
High Alk phos
High PTH
Low 1,25(OH) Vit D
A

Type I Vit D dependent

45
Q

Low Ca
Low Phos
High Alk phos

Low 1,25(OH) Vit D

A

Type II Vitamin D Dependent

46
Q

High Ca
High Phos
Low Alk Phos
Normal PTH

A

Hypophosphatasia

47
Q

Low Ca
High Phos
High Alk Phos
High PTH

A

Renal Osteodystrophy

48
Q

High Ca
Low Phos
High Alk Phos
High PTH

A

Hyperparathyroidism

49
Q

retinoblastoma prtoein (pRB-1) is a recessive supressor gene that is mutated in which tumor?

A

35% of osteosarcoma

50
Q

p53 is a dominant supressor gene that is mutated in which tumors?

A

50% of all tumors,
osteosarcoma (20-65%),
chondrosarcoma

51
Q

western blot

A

detects protein

52
Q

southern blot

A

detects DNA

53
Q

northern blot

A

detects RNA

54
Q

RT-PCR

A

reverse transcription PCR, highly sensitive detecting low copy number of RNA, reverse transcribed into cDNA

55
Q

siRNA

A

blocks translation of mRNA

OITE (2 decks)

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