Chapter 15

Question 1

silent

Answer 1

Change in DNA, structure is the same, single nucleotide change (3rd base in codon)

Question 2

loss of function

Answer 2

loses a function

Question 3

gain of function

Answer 3

codes for a protein with a new function

Question 4

missense

Answer 4

single nucleotide chance, new amino acid, change function

Question 5

nonsense

Answer 5

only one amino acid translated, no protein made

Question 6

frame shift

Answer 6

adding/ deleting causing reading frame to shift down and read wrong

Question 7

autosomal recessive

Answer 7

recessive give you the disease

Question 8

cystic fibrosis

Answer 8

chloride channel does not fold correctly

Question 9

Tay sachs

Answer 9

misfiled enzyme, metabolizes toxin in brain

Question 10

PKU

Answer 10

defective PAH enzyme

Question 11

autosomal dominant

Answer 11

huntingtons- gain of function abnormal protein refolds amyloid

Question 12

X-Linked

Answer 12

1. color blindess
2. hemophilia
3. muscular dystrophy

Question 13

deletion

Answer 13

lose of chromosome segment

Question 14

duplication

Answer 14

extra

Question 15

inversion

Answer 15

broken segment inserted in reverse

Question 16

translocation

Answer 16

non homologous chromosomes exchanging segments