Treatment of Genetic Diseases/ Case Studies

Question 1

PKU and Galactosemia are treated by the method of _____________

Answer 1

Dietary restriction

Question 2

Congential hypothyroidism is treated by the method of ___________

Answer 2

Replacement

Question 3

Hypercholestemia can be treated with the three methods of ____________

Answer 3

Diversion, inhibition or depletion

Question 4

What are the four methods to treat mutant protein disorders?

Answer 4

1. cofactor administration 2. Replace extracellular protein 3. Replace intracellular protein 4. Target intracellular protien

Question 5

Treatment of Factor VIII in hemophilia is an examples of _____________

Answer 5

Replacing extracellular proteins

Question 6

Treatment of Gaucher disease is an examples of __________

Answer 6

targeting intracellular proteins

Question 7

Recombinant enzyme replacement therapy appears to mitigate some aspects of __________, an x-linked condition in which there is neuron, renal and sweat gland damage to an accumulation of glycophingolipids due a mutated enzyme.

Answer 7

Fabry disease

Question 8

Nonsyndromic deafness is caused by a ________ mutation

Answer 8

GJB2

Question 9

Nonsymdromic deafness with retinitis pigementosa suggests ________

Answer 9

Usher

Question 10

Nonsymdromic deafness with a thyroid goiter suggests ________

Answer 10

Pendred

Question 11

Nonsyndromic deafness with aarrhythmis or sudden death suggests ___________

Answer 11

Jervel or Lange Nielson

Question 12

Nonsyndromic deafness with a white forelock suggests __________

Answer 12

Waardenburg syndrome

Question 13

Nonsyndromic deafness with 8th nerve schwannomas suggests __________

Answer 13

Neurofibromatosis type II

Question 14

Fragile X associated tremor/ataxia syndrome is a ____________

Answer 14

Premutation triplet repeat expansion

Question 15

Premature ovarian failure is a _________

Answer 15

Premutation triplet repat expansion

Question 16

Fragile X associated tremor ataxia syndrome clinical features include _________

Answer 16

Adult onset; ataxia; tremor; memory loss; parkinsonianism; peripheral neuropathy; occur more in men

Question 17

Fragile X (and tremor/ataxia syndrome) repeats are located on the __________

Answer 17

5’ UTR

Question 18

Friedrich ataxia repeats are located on the _________

Answer 18

intron

Question 19

Myotonic dystrophy 2 repeats are located on the ___________

Answer 19

intron

Question 20

Huntington’s disease repeats are located on the ________

Answer 20

exon

Question 21

Myotonic dystrophy I repeats are located on the __________

Answer 21

3’ UTR