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OITE Prep > Genetics > Flashcards

Genetics Flashcards

1
Q

FGFR3

A

Achondroplasia

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2
Q

COMP (2)

A

Pseudoachondroplasia, multiple epiphyseal dysplasia

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3
Q

FGFR2

A

Apert syndrome, Craniosynostosis

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4
Q

PHEX

A

Hypophosphatemic Rickets

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5
Q

Fibrillin-1

A

Marfan Syndrome

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6
Q

COL1A

A

Osteogenesis Imperfecta

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7
Q

Dystrophin

A

Duchenne/Becker Muscular Dystrophy

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8
Q

PMP22

A

Charcot-Marie-Tooth

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9
Q

cAMP

A

McCune-Albright Syndrome

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10
Q

Sulfate transporter

A

Diastrophic Dysplasia

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11
Q

COL2A1

A

Kniest Syndrome

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12
Q

CBFA1

A

Cleidocranial dysostosis

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13
Q

PTH receptor

A

Albright’s hereditary osteodystrophy (pseudohypoparathyroidism)

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14
Q

Alkaline phosphatase

A

Hypophosphatasia

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15
Q

EXT1, EXT2, EXT3

A

Multiple hereditary exostosis (EXT1 most severe)

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16
Q

Defective glucocerebrosidase

A

Gaucher disease

17
Q

Gs Alpha Protein

A

Fibrous Dysplasia

18
Q

SHOX

A

Leri Weill dyschondrosteosis (XD, bilat madelung deformity, dwarfism)

19
Q

PTHrP

A

Ollier’s disease, multiple enchondromas

20
Q

Master switch of chondrocyte differentiation

A

SOX-9

21
Q

SHOX

A

Leri-Weill dyschondrosteosis (dwarfism with Madelung’s deformity)

22
Q

Orthopaedic manifestations of Marfan’s (5)

A

Dural ectasia, scoliosis, protrusio acetabuli, ligamentous laxity, and pes planovalgus

23
Q

Function of CBFA1

A

Osteoblastic differentiation

25
Q

RUNX2

A

Cleidocranial dysostosis - trick question, same gene as CBFA1

26
Q

c-fos

A

Regulates differentiation of osteoblasts and osteoclasts

27
Q

Inheritance of duchenne’s

A

X-linked recessive

28
Q

SMN

A

Spinal muscular atrophy (most common cause of genetic death in children)

29
Q

TNSALP mutation causes

A

Hypophosphatasia (tissue non-specific isoenzyme of alk phos), AR

OITE Prep (13 decks)

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