biochem Flashcards
rate limiting enzyme: glycolysis
phosphofructokinase 1
gluconoegenesis
fructose- 1,6- bisphosphatases
TCA cycle
isocitrate dehydrogenase
glycogenesis
glycogen synthase
glycogenolysis
glycogen phosphorylase (McArdle’s Dz)
HMP shunt
glucose 6 phsophate dehydrogenase
de novo pyramidine synthesis
(C,T,U)
carbamoyl phosphate synthetase II
de novo purine synthesis
(A,G)
glutamine- phsophoribosylpyrophosphate (PRPP) amidotranferase
urea cycle
crbamyol phospate synthetase I
fatty acid synthesis
acetyl Co-A carboxylase (ACC)
fatty acid oxidation
carnitine acyltranferase I
ketogenesis
HMG- CoA synthase
cholestrol synthesis
HMG - CoA reductase.
codominance
both alleles contribute to the phentype of the heterzygote.
ex blood groups
variable expressivity
phenotype varies among individuals with same gentotype.
ex. two people with NF1 have varying dz severity
incomplete pentrance
not all individuals with a mutant genotype show the mutant phenotype
skips a generation.
in a population. not at a cellular level
pleiotropy
one gene contributes to multiple phenotypes.
ex: PKU has light skin, musty body odor and intellectual disability
anticipation
increased severity or earlier onset of disease in succeeding genetrations
ex: all trinucleotide repeat dz. Huntington, fragile X, friedreich ataxia. mytonic dystrophy
loss of heterozygosity
mutation in a tumor suppressor gene, the other allele must be deleted to devo cancer.
Retinoblastoma - two hit hypothesis
dominant negative mutation
heterzygous will also made a nonfunctional altered protein
linkage disequlibrium
certain alleles at 2 LINKED loci occur together more often than expected. this does NOT imply physical proximity of genes. genes can be on different chr.
population. not family.
mosaicism
. genetically distinct cell lines in the same person. mitotic error AFTER fertilization.
somatic (multiple tissue organs) vs. gonadal (on egg or sperm affected)
ex: mccune albright syndrome; lethal if it is somatic. survivable if mosaic.
locus heterogeneity
mutation at DIFFENENT LOCI but produce SAME PHNEOTYPE. ex: albinism.
marfans, MEN2B, homocystenuria all are due to different genes but all have marfanoid body habitus.
allelic heterogeneity
different mutations in the SAME LOCUS but give DIFFERENT PHENOTYPE
ex: B- thal
heteroplasmy
presence of both normal and mutant mtDNA. variable expression of mitochondrial inherited dz.
@ a cellular level, you have both normal and abnormal mito in the same cell.
cervical LNs drain?
head and neck