Biochemistry Flashcards
Ribonucleotide reductase drug
Hydroxy urea (HURR)
ADA def
SCID
Drug for lesch nyhan
Allopurinol, febuxostat
Lesch nyhan enz
HGPRT
Thymidylate synthase drug
5FU (FUTS)
Frame shift mutation eg
Duchene MD
Missense mutation eg
Sickle CA (aa changed)
eg of NHEJ abnormality
ataxia telengectasia, fanconi anemia
what dimer UV cause
thymine
RNA polymerase inhibitor drugs
rifampicin, actinomycin D(both pro and eu)
chloramphenicol MOA
inhibit peptidyl transferase (A to P site)
Streptomycin
bind to 30s, inhibit formation of initiation complex
collage structure
glycine, X Y
vitamin C in collagen
hydroxylation of proline and lysine
osteogenesis imperfecta mech
problem forming collagen triple helix (Type 1)
south western blot
DNA binding proteins
pleotropy
one gene corresponds to multiple defects
locus heterogeneity
mutations in different loci same disease (albinism)
allelic heterogeneity
different mutations in the same locus, same phenotype (thalassemia)
heteroplasmy
both normal and mutated mtDNA results in variable expression
AD and AR
structural genes and enzymes
X linked dominant eg
hypophosphatemic rickets
ragged red fibers
mitochondrial myopathy
B/L acoustic schwannoma
NF type 2
absent vas deferens
CF
CF voltage
more negative transepithelial potential difference
Rx of CF
N-acetyl cysteine (cleaves disulphide bonds in mucous glycoproteins)
death in duchenne
DCM
duchenne mech
truncated dystrophin
fragile X syndrome mech
CGGn, hypermethylation of cytosine base -> inactivation of FMR1 gene
CF of fragile X syndrome
eXtra large testes, jaws and ears, Mitral valve prolapse
quad screen
for down synd, beta HCG and inhibin A increased
aFP and estriol decreased
CF gene which chromosome
7
22 q11 deletion syndromes
diGeorge (thymic, parathyroid, and cardiac) and velocardiofacial (palate, facial and cardiac)
CI of isotretinoin
pregnancy
what is B3
niacin
B3 derived from
tryptophan
vitamin used to treat dyslipidemia
Niacin
NAD derived from which vitamin
B3, niacin
B5
pantothenic acid
B5 for
pantothenic acid for CoA
B6
pyridoxine
B6 for (very important vitamin)
transamination
Synthesis of cystathionine heme, niacin, histmine, and neurotransmitters like sertonin, E, NE, dopamine & GABA
B7
biotin
B7 for
biotin for carboxylation (adding C)
B9
folate
B12
cobalamin
two enzymes with B12
Homocysteine methyl transferase, Methyl malonyl CoA mutase (isomerase)
Maple syrup urine disease def
alpha keto acid dehydrogenase (need thiamine)
regulator of carbamoyl synthetase I
N acetyl glutamate
von Gierke def
glucose 6 phosphatase (increased uric acid)
DNA topoisomerase function
create break in the helix to add or remove supercoils
Fluroquinolones MOA
inhibit Topoisomerase II (DNA gyrase)
topoisomerase IV
LAC operon which binds to which
CAP to promoter
repressor to operator
nucleotide excision repair disease
xeroderma pigmentosum (UV -> thymine dimer)
stop codons
UGA
UAA
UAG
boxes of promoter
TATA (-25)
CAAT (-70)
enhancer and silencer positions
anywhere
First transcript is called
hnRNA (heterogenous nuclear)
signal for poly A tail
AAUAAA
Anti-smith antibodies what and seen in
to snRNP
SLE
Kozak consensus sequence
on eukaryotic mRNA (initiation of translation)
Associated with thalassemia intermedia beta globin
what inhibit G1 to S progression
p53 and Rb (tumor suppressor genes)
peroxisome: metabolism of what
VLCFA
branched chain FA
micro vs. intermediate filament fn.
micro (actin, movement)
intermediate (maintain cell structure)
6 steps in collagen synthesis
pre-pro alpha chain,
Hydroxylation (pro-alpha chain)-scurvy
Glycosylation (pro-collagen)-O. imperfecta, S=S
Exocytosis
Proteolytic processing (tropocollagen) remove S=S
Cross linking to collagen fibrils(EhlerD, Menke)
hereditary hemorrhagic telengectasia aka
Hosler Heber Tendu syndrome
Li Fraumeni syndrome
SBLA cancer syndrome
sarcoma, breast, leukemia adrenals
3 things about von Hippel Lindau disease
chromosome 3
1) cerebellar hemangioblastoma, 2) renal cell ca and 3) pheochromocytoma
4 trinucleotide expantion disease
Fragile X syndrome
Friedreich ataxia
Huntington disease
Myotonic dystrophy
ATP of B1
alpha-ketoglutarate dehydrogenase
transketolase
Pyruvate dehydrogenase
vitamin D and sun
7-dehydro cholesterol becomes cholecalciferol
HUG
heme, urea and gluconeogenesis
dehydrogenase enzyme for
redox reactions
glucose sensor of beta cell
glucokinase
4 fates of pyruvate
alanine (ALT)
oxaloacetate (PC)
acetyl coA (PDH)
lactate (LDH)