13. Mutations

Question 1

•any permanent heritable change in the DNA base sequence of an organism

Answer 1

mutations

Question 2

purine-purine or pyrimidine -pyrimidine mutation

Answer 2

transition

Question 3

point mutation

enumerate

Answer 3

• transition
• transversion
• silent mutatin
• missense mutation
• nonsense mutaion

Question 4

purine-pyrimidine or pyrimidine -purine mutation

Answer 4

transversion

Question 5

• new codon codes for the same amino acid

* no effect on protein

Answer 5

silent mutation

Question 6

new codon codes for diff amino acid

Answer 6

missense mutation

Question 7

new codon is a stop codon

shorter than normal, usually non fx protein

Answer 7

nonsense mutation

Question 8

deletion or addition of bases

Answer 8

frame shift mutation

Question 9

• loss of large areas of chromosomes durign unequal crossover in meiosis
• loss of fx
• protein shorter than normal or entirely missing

Answer 9

large segment deletion

Question 10

ex. Tay-Sachs

Answer 10

Splice donor/acceptor

Question 11

ex. Gaucher

Answer 11

Splice donor/acceptor

Question 12

ex. ß-thalassemia

Answer 12

Splice donor/acceptor

Question 13

• splice site is lost

* variable effects –> addition or deletion of a few amino acids to deletionof an entire exon

Answer 13

Splice donor/acceptor

Question 14

• expansions in coding regions cause protein product to be longer than normal and unstable
• diseases often show anticipation in pedigree

Answer 14

triple repeat expansion

Question 15

ex. huntington disease

Answer 15

triple repeat expansion

Question 16

ex. fragile X syndrome

Answer 16

triple repeat expansion

Question 17

ex. Myotonic dystrophy

Answer 17

ex. triple repeat expansion