midterm test 2 study guide

Question 1

table 1: sickle cell anemia
Macromolecule

Question 2

Macromolecule:

Answer 2

Point Mutation in Beta Globin gene (substitution of
Valine for Glutamic Acid) - fibre formation

Question 3

organelle

Answer 3

Mutated protein moves through protein production
pathway. (Note - valine hydrophobic)

Question 4

cell:

Answer 4

Sickle shape; cleared after 10-20 days (vs 120 days for
normal blood cells)

Question 5

organ/organ system:

Answer 5

Sickled cells can block small blood vessels and block
movement of oxygen-carrying blood

Question 6

Organism

Answer 6

Anemia, pain crisis (sickle crisis), stroke, jaundice

Question 7

population:

Answer 7

1/12 carriers (African descent); (Very high incidence);
Heterozygote advantage where malaria is high

Question 8

Table 2: CCR5 DELTA 32

Question 9

Macromolecule:

Answer 9

CC Chemokine receptor 5 (CCR5); 32 base pair
deletion in the coding region; results in non-functional
protein

Question 10

organelle

Answer 10

protein receptor doesn’t reach cell surface

Question 11

cell

Answer 11

CCR5 receptor missing. HIV-1 entry impaired in
homozygotes because of missing co-receptor

Question 12

organ/organ system:

Answer 12

HIV can’t infect cells; no subsequent death of T cells

Question 13

Organism

Answer 13

Homozygotes immune to HIV subtype

Question 14

Population

Answer 14

Higher prevalence of this mutation in N. European
descent - still searching for selection pressure

Question 15

Table 3: CCFR

Question 16

macromolecule

Answer 16

membrane bound protein (chloride channel) more than 2500 diff mutations (rane in severity) f508del most common

Question 17

organelle

Answer 17

mutated protein sometimes reaches cell surface; sometimes targeted for degration (depends on mutation)

Question 18

cell

Answer 18

less functional / no chloride channel at cell membrane, other channells dont work properly

Question 19

organ/organ system:

Answer 19

mucus builds up in lungs; salty sweat; lack of pancreatic enzymes

Question 20

organism

Answer 20

coughing, poor growth, lung infections, early death

Question 21

Population

Answer 21

1/20 carriers (eurpean desent) (very high incidence) one idea: decreased severity of chlorea???

Question 22

4. LACTASE PERMENANCE

Question 23

macromolecule:

Answer 23

lactase is the enzyme responsible for digesting the milk sugar lactose and its prodution decreases after the weening phase in most mammals. European population: a single mutaiton -13910t*

Question 24

organism:

Answer 24

can digest milk and obtain nutrients and energy from dairy

Question 25

cell:

Answer 25

conti nues to produce lactase past the weening stage

Question 26

population:

Answer 26

Different mutations in Africa, Middle East, Europe. LP
has evolved multiple times - example of convergent
evolution. Also example of human gene–culture
coevolution