First Aid: Biochemistry Flashcards
DNA and histone methylation make DNA _____________.
sterically inaccessible
Histone acetylation ________ DNA.
activates
Nucleosides have ________.
only sugars (think of the S)
Nucleotides have _________.
phosphates (think of the T)
Methotrexate inhibits ___________.
dihydrofolate reductase, which is necessary for thymine synthesis
Ataxia telangiectasia is a defect of the ___________ pathway.
non-homologous end joining
What do RNA polymerases I, II, and III do?
I makes rRNA, II makes mRNA, and III makes tRNA.
snRNPs control _______, while miRNA _______.
splicing; decreases translation by degrading mRNA
tRNA binds amino acids at the _____ end.
3’
tRNA use ______ to charge and _______ to translocate through the rRNA.
ATP; GTP
COP I is _______ movement, while COP II is _________; clathrin is ________.
retrograde; anterograde; a trafficker between the trans-Golgi and the membrane
What is Menkes disorder?
An X-linked, recessive defect of copper absorption that leads to kinky hair, growth retardation, and hypotonia–connective tissue issues.
Marfarns is an _________.
autosomal dominant defect of fibrillin, a glycoprotein that forms sheath around elastin; presents with long limbs and fingers, pectus excavatum, and heart problems
Polycystic kidney disease… AR or AD?
Both!
FAP…. AR or AD?
AD
Hereditary spherocystosis… AR or AD?
AD
p53 is shown by _________.
SBLA (sarcoma, breast, leukemia, and adrenal gland cancers)
MEN (multiple endocrine neoplasias) is associated with the __________ genes.
MEN1 (for type 1) and RET (for types 2A and 2B)
Cystic fibrosis is an __________.
autosomal recessive defect, most commonly of Ph508
What are the symptoms of myotonia type 1?
Myotonia (inability to relax muscles), testicular atrophy, frontal balding, and arrhythmia (my tonia, my testicles, my toupee, and my ticker)
Duchenne’s results from ________.
frameshift or nonsense mutations in the dystrophin gene
What are the trinucleotide repeat disorders?
Huntington, myotonic dystrophy, Friedrich ataxia, and fragile X (try hunting for my fried eggs [X])
Atresia is ________.
a disorder in which an orifice or passage that should be open is closed
95% of Down syndrome cases result from ___________.
meiotic nondisjunction (the rest are due to Robertsonian translocations)
