Unit 1

Question 1

Noonan Syndrome

Answer 1

Single Nucleotide Polymorphism
PTPN11

Question 2

Inborn Errors of Metabolism (IEM)

Answer 2

genetic disorders relating to enzyme production

Question 3

Phenylketonuria (PKU)

Answer 3

Inborn error of metabolism
Lack of PAH (enzyme)

Question 4

Tay-Sachs

Answer 4

Lysosomal

Question 5

Lysosomal Storage Disorders (LSDs)

Answer 5

Lysosomal Storage Disorder and Inborn Error of Metabolism
Deficiency of hexosaminidase A causes GM2 ganglioside to accumulate in neuron lysosomes and burst

Question 6

Faulty Ion Channel Diseases

Answer 6

Sodium channels: pain/heart
Potassium channels: hearing loss
Chloride channels: cystic fibrosis

Question 7

Cystic Fibrosis (CF)

Answer 7

Chloride ion channel mutation
Cystic Fibrosis Transmembrane Receptor (CFTR)
Ions trapped inside, draw water in

Question 8

Kalydeco

Answer 8

Treatment for CF
Forces chloride channel open
Only works if closed channel CF
Limitation: Cost

Question 9

Microtubules

Answer 9

Tubulin Dimer
Largest Diameter
Form Cilia

Question 10

Microfiliments

Answer 10

Actin monomers
Smallest in diameter
Cell stretching and anchoring

Question 11

Intermediate filaments

Answer 11

Paired proteins
Intermediate diameter
Abundant in nerve and skin cells

Question 12

Hereditary Spherocytosis

Answer 12

Cytoskeleton Disorder
Anemia
Ankyrin and Spectrin do not anchor in RBCs
Lack Biconcave shape
Destroyed by spleen

Question 13

Cell Replication Checkpoints

Answer 13

S-Phase
G2
Between metaphase and anaphase

Question 14

S-Phase Checkpoint

Answer 14

DNA Replication
Slow & Repair / Apoptosis

Question 15

G2 Checkpoint

Answer 15

Apoptosis (check for survivn)

Question 16

Spindle Assembly Checkpoint

Answer 16

Check if chromosomes attached and aligned

Question 17

Telomeres

Answer 17

6 bases repeated 100-1000x
Each division loses 50-200
Stop replication after 50ishx

Question 18

Dyskeratosis Congenita (DKS)

Answer 18

Shortened telomeres
TERT gene (enzyme responsible for adding telomeres