BIOCHEM Flashcards
Cells derived from common myeloid progenitor
macrophages, granulocytes (neut, eosin, baso, mast), erythrocytes, platelets
cells derived from common lymphoid progenitor
T lymphocytes, B lymphocytes, natural killer cells
immediate immune response to broadly conserved molecular motifs
(cytoplasmic receptor binding viral nucleic acids) or (cell surf rectors binding LPS in gram neg bacteria)
Innate immune response
the 3 Main APC’s are
dendritic cells, macrophages, activated B cells
what performs presentation of extracellular peptide antigens to CD4+ T cells in MHC-II
APCs
what causes decreased level of CD4+ T cells, normal/slight dec of CD3+ T cells, and NORMAL CD8+ T cells?
MHC-II pathway defect in thymus
what is defected in bruton agammaglobinemia, common variable immunodeficiency, IgA deficiency?
B cells
what is defected in C1 esterase inhibitor def, C3 deficiency, terminal complement deficiency
Complement
-Ataxia telang syndrome
-Hyper-IgM syndrome
-Severe combined immunodefiency
-wiskott-aldrich syndrome
Mixed B cells and T cells defect
-Chediak-higashi syndrome
-chronic granuloma disease
-leukocyte adhesion def
-myeloperoxidase def
-severe congenital neutropenia
Phagocytes defect
-chronic mucocutaneous candida
-DiGeorge syndrome
-Hyper-IgE syndrome (job)
-IL-12 receptor def
-IPEX syndrome
T cells defect
what are MHC-restricted and must use receptors to bind peptide antigens that are presented in MHC molecules (I and II)
T cells
(so def in T cells- the response to peptide antigens in both MHC classes I and II will be defected)
CD4+ T cells bind EXTRACELLULAR PEPTIDE ANTIGENS presented by APCs in …..
MHC class II
CD8+ T cells bind CYTOPLASMIC PEPTIDE ANTIGENS presented by ALL NUCLEATED CELLS in….
MHC class I
amlyo (1,4- 1,6) transglucosidase (glycogen branching enzyme) def
GSD type 4, Anderson disease
*hepatosplenomegaly, hypoglycemia, esophageal varices/cirrhosis/ascites
amylo 1, 6 glucosidase (glycogen debrancher enzyme) def
GSD type 3, Cori
*hepatomegaly, failure to thrive, hypoglycemia
glucose 6 phosphatase def (G6P)
*inhibit conversion of lactate to pyruvate
GSD type 1, von gierke
*hypotonia, liver probs, hypoglycemia, lactic acidosis
alpha 1, 4 glucosidase def
GSD type 2, Pompe/acid maltase def
*myopathy, hypotonia, resp distress, fail to thrive, cardiomegaly in early childhood
muscle phosphorylase def
GSD type 5, McArdle disease
*presents early adult, exercise intolerance, fatigue, cramps, poor endurance
*^^ creatine kinase, myoglobinuria, rhabdomyolysis
demyelination from injury to oligodendrocytes
-Lhermitte sign (electric shock down neck and arm)
Multiple sclerosis
extracellular protein aggregation
-abnormal beta amyloid protein accumulation as amyloid plaques
Alzheimers dz
intraneuronal alpha synuclein inclusion bodies
Parkinsons/ Lewy body dementia
defective CD40L
inability to class switch
NORMAL levels of B and T lymphocytes
Hyper-IgM syndrome
defect in DNA DS break repair enzymes
Ataxia-telangiectasia (Louis bar syndrome)
IgA deficiency
defective phagosome-lysosome fusion in Neutrophils
Chediak-Higashi syndrome
what requires 3 OH group from the enzyme primase (DNA dep RNA polymerase)
DNA poly 3
the leading strand moves what direction in comparison to tuning fork
toward
what removes RNA primers and replaces with DNA
DNA poly 1
what is responsible for proofreading okazaki fragments
DNA poly 3
tightly coiled DNA are more or less active
less active
what is considered the glue of okazaki fragments
ligase
what does negative supercoiling
top
normal MCV, normal Fe 2+, normal transferrin
HIGH unconjugated bilirubin
HIGH lactate dehydrogenase
LOW haptoglobin
Reticulocytosis
Sickle Cell anemia - normocytic normochromic hemolytic anemia
**pain in hands
LOW MCV, LOW Fe 2+, LOW ferritin, HIGH transferrin, HIGH TIBC
Koilonychia, fatigue, glossitis, conjunctival pallor
Iron Deficiency Anemia- microcytic hypochromic
altered ability to transport bilirubin glucuronides into bile canalculi
-HIGH CONJUGATED Bilirubin
-HIGH COPROPHYIN 1 IN URINE
-NORMAL Lactate Dehydrogenase
-NORMAL LIVER
-Mild recurrent jaundice, scleral icterus
ROTOR syndrome (AR)
altered ability to transport bilirubin glucuronides into bile canalculi
-HIGH CONJUGATED Bilirubin
-NORMAL COPROPHYIN 1 IN URINE
-NORMAL Lactate Dehydrogenase
-LIVER IS BLACK
Dubin Johnson syndrome
decreased gluconuryl transferase enzyme
HIGH UNCONJUGATED BILIRUBIN
Gilbert syndrome
ABSENT gluconuryl transferase enzyme
HIGH UNCONJUGATED BILIRUBIN
Crigler-Najjar
potential to form stag horn calculi, also called magnesium ammonium phosphate
Struvite stones
(catheters)
target separation: RNA with formaldehyde
Probe: Labeled DNA that is complimentary to mRNA of interest
**How much RNA of interest is present
Northern Blot
target separation: genomic DNA cut with restriction enzymes
Probe: Labeled DNA that targets gene of interest
**to detect restriction fragments, organization of genes
Southern blot