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Flashcards in Biochemistry Deck (16):
1

Lesch-Nyhan syndrome

defective purine salvage due to absent HGPRT
- leads to excess uric acid production and de novo purine synthesis
- treat with allopurinol or febuxostat
- HGPRT: Hyperuricemia, Gout, Pissed off (aggression, self-mutilation), Retardation, dysTonia

2

transition vs. transversion mutation

- transition = purine to purine or pyrimidine to pyrimidine
- transversion = switch between types

3

xeroderma pigmentosum

defective nucleotide excision repair
- specific endonucleases are not able to release damaged bases (ex: thymine dimers formed by UV radiation) so that DNA polymerase and ligase can repair

4

HNPCC defect

mismatch repair

5

ataxia telangiectasia defect

nonhomologous end joining
- unable to repair double-stranded DNA breaks

6

mRNA start codon

AUG - methionine

7

mRNA stop codons

UGA, UAA, UAG
- u go away, u are away, u are gone

8

direction of DNA/RNA/protein synthesis

5' to 3' and N terminus to C terminus

9

Kartagener Syndrome

primary ciliary dyskinesia
- immotile cilia due to dynein arm defect
- results in female and male infertility (increased risk of ectopic)
- can cause bronchiectasis, recurrent sinusitis, and situs inversus

10

Collagen types and the tissues they are found in

Be So Totally Cool, Read Books
- bone, skin, tendon - type I
- Cartilage - type II
- Reticulin (skin) - type III
- Basement membrane - type IV

11

Type I Collagen

most common - found in bone, skin, tendon, dentin, fascia, cornea, late wound repair
- Type 1 - bONE
- decreased production in osteogenesis imperfecta type 1

12

Type II Collagen

cartilage (including hyaline), vitreous body, nucleus pulposus
- type 2 - carTWOlage

13

Type III Collagen

Reticulin - skin, blood vessels, uterus, fetal tissue, granulation tissue
- vascular type of Ehler's Danlos
- type 3 - threE D

14

Type IV Collagen

Basement membrane, basal lamina, lens
- type IV under the floor (basement membrane)
- defective in Alport syndrome, targeted by Abs in Goodpasture

15

osteogenesis imperfecta

genetic brittle bone disease
- most common is AD decrease in type 1 collagen formation
- mult fractures with minimal trauma, blue sclera, hearing loss, dental imperfections

16

Ehlers-Danlos sydrome

faulty collagen synthesis -- hyperextensible skin, tendency to bleed, and hypermobile joints
- 6+ types
- inheritance/severity varies, AR or AD
- may be associated with joint dislocation, berry and aortic aneurysms, organ rupture
- hypermobility type (most common)
- classical type (type V mutation)
- vascular type (type III collagen)