Conditions/Drugs Q2

Question 1

Toxin that causes DNA damage such as adduct formation, AF-guanine conjugation, oxidative DNA damage, or DNA strand breakage

Answer 1

Aflatoxin B1

Question 2

Condition caused by homozygous mutations in the splice junction sequences at intron-exon boundaries. Results in little to none hemoglobin beta chain produced. SNP

Answer 2

Beta thalassemia

Question 3

Toxin that catalyzes the transfer of NAD+ to a residue in eukaryotic elongation factor (eEF-2), inactivating it.
Causes upper respiratory tract infection. Dense, gray pseudomembrane covering the tonsils is seen.

Answer 3

Diphtheria

Question 4

Dense, gray pseudomembrane covering the tonsils indicates this condition

Answer 4

Diphtheria infection

Question 5

Toxin that is a N-glycosidic hydrolase; cleaves the N-glycosidic bonds of rRNA 60S subunit, inactivating the ribosome and inhibiting translation elongation.

Answer 5

Ricin toxin

Question 6

Action of ricin toxin

Answer 6

Cleaves N-glycosidic bonds of rRNA 60S subunit, inactivating the ribosome and blocking translation elongation

Question 7

Diphtheria and Ricin toxin stop this cellular process

Answer 7

Translation elongation

Question 8

Condition caused by a mutation (SNP) where the associated gene lacks a phenylalanine in the 1st nt binding domain, causing a defect in folding which prevents forward transport to the Golgi.

Answer 8

Cystic fibrosis

Question 9

Disease caused by a defective GlcNAc phosphotransferase (Golgi enzyme). Enzyme fails to transfer phosphate to mannose residues, resulting in no hydrolases being targeted for lysosomes and thus an accumulation of substrates.

Answer 9

Inclusion-cell (I-cell) disease

Question 10

Condition caused by an SNP of the 6th position of beta globin chain, where it is changed from a hydrophilic Glu to hydrophobic Val, causing protein misfolding.

Answer 10

Sickle cell anemia

Question 11

A1-antitrypsin (A1AT) deficiency is due to this

Answer 11

Protein misfolding

Question 12

Condition where nucleotide excision repair enzymes are mutated, leading to an inability to repair DNA damage from UV (pyrimidine dimers)
Severe sunburn, freckles, solar keratoses, skin cancer

Answer 12

Xeroderma Pigmentosum

Question 13

Xeroderma pigmentosum is due to a problem with this DNA repair system

Answer 13

Nucleotide excision repair

Question 14

Beta thalassemia is due to

Answer 14

Mutations in the splice junction

Question 15

A subunit of the diphtheria toxin inactivates this protein

Answer 15

Elongation factor 2 (eEF-2)

Question 16

Ricin A is what kind of enzyme

Answer 16

N-glycoside hydrolase

Question 17

Ricin toxin affects what protein

Answer 17

rRNA of 60S subunit

Question 18

The defective enzyme in I-cell disease fails to create what

Answer 18

mannose-6-P

Question 19

The SNP of sickle cell anemia causes what

Answer 19

Protein misfolding

Question 20

Disorder linked to imprinted region of chromosome 15 where the gene from mother is normally silenced and paternal gene is deleted or mutated
Learning difficulties, short stature, compulsive eating

Answer 20

Prader-Willi syndrome

Question 21

Disorder linked to imprinted region of chromosome 15 where the gene from father is normally silenced and maternal gene is deleted or mutated
Learning difficulties, speech problems, seizures, jerky movements, unusually happy disposition

Answer 21

Angelman Syndrome