chapter 19

Question 1

what is a mutation?

Answer 1

Changes in DNA sequence from the “normal” or original sequence

Question 2

missense mutation

Answer 2

change of 1 amino acid to another (N to Y) / single amino acid change
- in protein

Question 3

nonsense mutation

Answer 3

changes a codon that codes for an amino acid to a stop codon
- in protein (it ends it)

Question 4

point mutation

Answer 4

change of a single nucleotide (A to U)

Question 5

frameshift mutation

Answer 5

addition/deletion of nucleotides not divisible by 3

Question 6

base substitution

Answer 6

substitution of 1 nucleotide for another
- in DNA

Question 7

deletion or addition mutation

Answer 7

either you add or delete 1-2 letters which makes no sense disrupting the reading frame

or you add or delete 3 letter which still makes sense!
- nucelotides are added/deleted
- Frameshift change
- in DNA

Question 8

silent mutation

Answer 8

no change in amino acid sequence

Question 9

somatic mutation

Answer 9

mutations in body cells (can’t be passed down)

Question 10

germ-line mutation

Answer 10

mutations in the cells that give rise to sperm and egg cells and passed to next generation

Question 11

What types of mutations can be passed from one generation to the next?

Answer 11

germline, loss of function, silent, missense, nonsense, frameshift

Question 12

what types of mutations can be passed to the next generation?

Answer 12

mutations if they occur in germline cells

Question 13

reading frames

Answer 13

where ribosome starts and how sequence is divided into
codons.

Question 14

if you delete 1/2 letters, is the reading fram disreupted or can u still understand it (maintained)

Answer 14

no its disrupted

Question 15

naming system for mutations

Answer 15

1st the original amino acid
2nd # of amino acid
3rd is new amino acid

ex: N501Y
N - original amino acid
501 is the # of amino acid
Y is the new amino acid

Question 16

sickle cell anemia mutation consists of…

Answer 16

missense and point mutation
base substitution and gremlin

Question 17

symptoms of sickle cell anemia in order

Answer 17

1. β-globin DNA sequence with mutation is transcribed by RNA polymerase.
2. β-globin pre-RNA with mutation is processed to mRNA.
3. β-globin protein with amino acid change is translated from mRNA by ribosome.
4. Mutant β-globin protein assembles into abnormal hemoglobin rods.
5. Rod-shaped hemoglobin distorts red blood cell (RBC) membranes.
6. Sickled red blood cells (RBCs) clump and/or are destroyed in circulation.
7. Clumped RBCs interfere with circulation and damage organs; deficiency of RBCs leads to fatigue + poor mental and physical development