Diseases

Question 1

Diamond Blackfan Anemia

Answer 1

1) Congenital Bone Marrow Failure Syndrome
2) Molecular Genetic Defect
- null mutations in genes encoding ribosomal protein L5 or L11
3) Patients are heterozygous=HAPLOINSUFFICIENCY
4) Incidince-6 per million live birth (Both sexes)
5) Lack of RpL5 causes high incidence of cleft palate and thumb abnormalities
6) Symptoms:
- presents in first few years of life w/normochromatic macrocytic anemia
- absence of erythroid precursors in normal marrow
- Elevated RBC Ad deaminase (eADA) and Hb F
- Craniofacial, hand, heart, and urinary tract development defects
- fetal/infant growth retardation (severe cases)

Question 2

Tetracycline

Answer 2

Binds 30s and prevents aminoacyl-tRNA binding in the A-site

Reversible

Question 3

Erythromycin

Answer 3

Blocks peptidyl transferase activity in 50s

Question 4

Chloramphenicol

Answer 4

Blocks aminoacyl-tRNA binding to 50s

Inhibits eukaryotic mitochondrial translation

Question 5

Streptomycin/Neomycin/Gentamycin

Answer 5

Binds to 30s subunit

• causes codon misreadings that leads misincorporated AA
• nonfunctionoal proteins

Question 6

Cystic Fibrosis

Answer 6

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