Genes

Question 1

PMP22

Answer 1

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

Question 2

Dystrophin absent

Answer 2

Duchenne Muscular Dystrophy

X-linked recessive

Question 3

Dystrophin protein decreased

Answer 3

Becker’s muscular dystrophy
Live longer
DC later than duchenne

Question 4

COL 1A1 or COL 1A2

Answer 4

Osteogenesis imperfecta

Question 5

G380 mutation of FGFR3

Answer 5

Achondroplasia

Question 6

RUNX2 gene

Answer 6

Autosomal dominant, cleidocranial dysplasia

Question 7

Fibrillin gene

Answer 7

Marfan syndrome

Question 8

Mutation cAMP

Answer 8

Fibrous dysplasia

Question 9

DTDST gene (SLC26A2) 
Sulfate transfer protein

Answer 9

Diastrophic Dysplasia

Question 10

RUNX2/CBFA1 mutation

Autosomal dominant

Answer 10

Cleidocranial dysplasia

Question 11

t(X;18) translocation

Forms the SYT-SSX1 protein

Answer 11

Synovial sarcoma

Question 12

Problem with frataxin a mitochondrial protein

GAA repeat at 9q13

Answer 12

Friedreich’s ataxia

Question 13

Autosomal dominant

Fibrillin-1 (FBN1) gene

Answer 13

Marfan syndrome

Question 14

Autosomal dominant

Fibrillin-1 (FBN1) gene

Answer 14

Marfan syndrome

Question 15

FGFR3

Answer 15

Achondroplasia

Question 16

Type 1 collagen

Answer 16

Osteogenesis imperfecta and ED

Question 17

Collagen type 2

Answer 17

SED, achondrogenisis. Sticklers syndrome

Question 18

SMN1 Gene mutation

Answer 18

Spinal muscular atrophy

Question 19

rhBMP-2 used for?

Answer 19

Tibial open tibia fx to accelerate healing, prevent non unions

Question 20

Geniculate artery supply
ACL
PCL
MCL
LCL

Answer 20

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

Question 21

Mechanism of non nitrogen-containing bisphosphonates

Answer 21

Produces toxic ATP analog

Question 22

Mechanism of nitrogen-containing bisphosphonates

Answer 22

Inhibits farnesyl pyrophosphate synthase (mevalonate pathway)

Question 23

McCune Albright Syndrome is what (3 things)

Answer 23

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

Question 24

Explain fibrous dysplasia genetic pathophysiology

Answer 24

alpha GS protein mutation upregulates cAMP

Question 25

Multiple hereditary exostosis gene

Answer 25

Mutation in EXT1 gene

Question 26

Neurofibromatosis mutation?

Answer 26

NF1 that codes for neurofibromin

Question 27

t(X;18) is from what disease?

Answer 27

Synovial sarcoma

Question 28

Hemophillia A is what inheritance pattern?

Answer 28

X linked recessive

Question 29

Myxoid liposarcoma gene?

Answer 29

t(12:16)

Question 30

Osteosarcoma associated with what gene?

Answer 30

p53