5-16-14

Question 1

Fabry’s Disease

Answer 1

XR

• Defect in alpha galactosidase A and accumulation of ceramide trihexosid
• Peripheral Neuropthy, cardiovascular and renal disease that ultimately lead to death

Question 2

Gaucher’s Disease

Answer 2

AR

• Defect in glucocerebrosidase, glucocerebroside accumulates
• HSM, Bone Pain and Anemia.
• Variable course

Question 3

Niemann Pick

Answer 3

AR

• Cherry Red spot and HSM
• Defect in sphingomyelinase accumulation of sphingomyline
• Patients die by 2 yrs

Question 4

Tay Sachs

Answer 4

AR

• Cherry red spot without HSM
• Hexosaminidase is deficent leading to GM2 ganglioside accumulation
• Progressive neurologic decline leading to early death

Question 5

Metachromatic Leukodystrophy

Answer 5

• AR
• Defect in arylsulfatase leading to accumulation of sulfatides
• Normal until 6 months of age and then progressive neurological decline

Question 6

Hurler’s Syndrome

Answer 6

• AR
• Defect ininduronidase leading to accumulation of heparan and dermatan sulfate
• Gargoyle faces, cataracts, death in teens

Question 7

Hunter’s

Answer 7

XR

• defect in iduronidate sulfatase leading to accumulation of dermatan and heparan sulfate
• Gargoylism is less pronounced and patients generally don’t have clouding etc

Question 8

Krabbes Disease

Answer 8

AR
Beta galactosidase
-PAS positive
-Peripheral Neuropathy and optic atrophy

Question 9

Pompe’s Disease

Answer 9

AR

• Defect in alpha 1,4 galactosidase
• DEfect in glycogen metabolism
• Cardiomegally, HSM, Hypotonia, death by 10yrs

Question 10

Stop Codons

Answer 10

UAG
UGA
UAA

Question 11

Termination sequence

Answer 11

• On coding strand is AATAAA
• Provides the docking recognition site for polyadenylation machinery
• Occurs downstream of the 3’ UTR
• Polydenylation keeps mRNA stable for longer

Question 12

Heterogeneous Nuclear RNA

Answer 12

-Primary transcript of RNA made by POL2 that is not edited or processed

Question 13

5’ Cap

Answer 13

• 7 methyl-guanine cap is made upstream of the 5’UTR

- Prevents degreadation and allows for intitation of translation

Question 14

Poly A tail

Answer 14

-Occurs below 3’UTR important for stability and end of translation signal

Question 15

Splicing

Answer 15

• Splicosomes from SnRNP create lariat structure between A and Gs allow for cleavage and loss of lariat
• Ab can be made to splicosomes in lupus
• Alternative splicing errors can result in thallasemia