exam Flashcards
(49 cards)
if H+ is high
highly acidic
autosomal dominant
one mutated copy gives the disease
autosomal recessive
two copies of gene needed
one from each parent
who is affected with mitochondrial
through mmaternal onyl
examples of autosomal recessive
cf
thalassemias
sickle cell
haemachromotosis
examples of autosomal dominant
HHT
VWD
hereditary spherocytosis
factor v leiden
neurofibromatosis type 1
marfans
osteogenesis imperfecta
familial phaeochromocytoma
karyotyping
detects chromosomal changes,
trisomy 21
FISH
detects specific deletions/ duplications - di george
microarray
detects small cnvs - develpomental delay
gene sequencing
detects single nucleotide variants- cf , brca
pcr
detects point mutations or repeats - huntingtons
whole genome
detects all coding/ non coding genes- rare disroders
what to use for unbalanced
microarray
what is bilirubin a byproduct of
haemoglobin breakdown
where are old rbcs brooken down
in the spleen
what is heme broken down into
heme and globin then biliverdin
what is heme broken down to biliverdin by
heme oxygenase
what is biliverdin reduced to
unconjugated bilirubin
unconjudgated to conjugated bilirubin
unconjugated binds to albumin and transported to liver
once inside hepatocyte the liver cells take it up and conjugated it
- Inside the hepatocytes, unconjugated bilirubin is conjugated with glucuronic acid via the enzyme UDP-glucuronosyltransferase (UGT1A1).
- This forms conjugated bilirubin (direct bilirubin), which is water-soluble and can now be excreted in bile.
excretion of conjugated biliruibin
excreted form liver into bile which then enters gallbladder or directly into intestine
in the intestine gut bacteria convert some bilirubin into urobilinogen
direct bilirubin
Bilirubin that has been processed by the liver and is water-soluble
indirect bilirubin
form of biliruiin that has not been procssed by hthe lover yet; fat soluble
main cells of innate
Neutrophils, macrophages, NK cells
antiplatelet
aspirn
