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
target separation: Protein denatured with SDS
Probe: ANTIBODY against protein of interest
**How much PROTEIN of interest is present
Western blot
LOW MCV, HIGH Fe 2+, HIGH Ferritin, LOW transferrin
microcytic hypochromic
coarse basophilic granules that stain POSITIVE for iron with prussian blue stain
Sideroblastic anemia
Positive for DOG1 and CD117
GIST
(PDGFRA, and KIT mutations) - receptor tyrosine kinase
APC suppressor gene mutation
Familial adenomatous polyps (FAP)
MLH-1
POSITIVE for Pancytokeratin
Lynch syndrome (mismatch repair)- hered non polyp colorectal cancer syndrome
CAG repeat
huntingtons, HTT gene on chrom 4
CTG repeat
Myotonic Dystrophy- DMK gene
GAA repeat
Friedrich’s Ataxia- FXN gene
CGG repeat
Fragile X - FMR1 gene
nondisjunction during meiosis is what syndrome
Downs - triploidy chromosome 21
alpha galactosidase A def
Fabry (XLR)
B-glucocerebrosidase def
Gaucher
defect in Rb tumor suppressor gene
Rb inhibits G1-S progression of cell cycle, so a defect in this gene will INCREASE this
Retinoblastoma, A/W osteosarcoma
(“two hit”- AR) w/ both genes need to be affected for cancer to develop
XL recessive
Type 4 collagen, at the alpha 3/4/5 subunits in the basement membranes (hereditary)
renal, auditory, ocular problems
(bilateral sensory hearing loss, progression of renal disease), blood in urine
Alport Syndrome
Type 6 collagen (classic type 1 of this dz)
in skin, hair, placenta
Ehler- Danlos
type 4 collagen (acquired not hereditary) in basement membranes
goodpasture
megaloblastic macrocytic anemia
hyperhsegmented neutrophils
increased homocysteine levels
what vitamin def
folate
3 D’s: diarrhea, dermatitis, dementia
“symmetric red rash on sun exposed areas, neck necklace”
Pellagra- niacin deficiency
microcytic anemia, sideroblastic anemia
what vit def
vitamin B6 pyridoxine
normocytic anemia
what vit def
vitamin B2 (riboflavin)
what test amplifies a desired DNA fragment, diagnostic tool of Neonatal HIV and herpes encephalitis
PCR
assesses size, protein expression of individual cells in sample
*immunodeficiencies/hematologic abnormalities
(CD4+ t cell count)
flow cytometry
compare transcription of genes in 2 RNA samples
(thousands)- cancer analysis
microarray
detect an antibody/antigen in a patients blood
(screening)
ELISA
direct visualization of chromosomal abnormalities/specific gene localization
(micro deletion, translocation, duplication) ex: trisomy 21
FISH
diagnose chromosome imbalances
(trisomal, sex chromosomes)
karyotyping
severe decrease of B and T cells
DEF OF ADENOSINE DEAMINASE
SCID
chromosome deletion on long arm of 22q11
DEC CD3 T cells
hypocalcemia
cleft lip/palate, cardiac abnormalities
DiGeorge- thymic shadow, 3/4 pharyngeal pouches defect, tetralogy of fall, no parathyroid gland
STAT3 mutation on chrom 17
HYPER IgE!!!!
Job syndrome (Hyper IgE) - severe eczema/recurrent infections
parathyroid hyperplasia, medullary carcinoma of thyroid, pheochromocytoma (adrenal gland tumor)
MEN 2A
what mutation
RET oncogene GOF
mucosal neuromas, marfanoid body habitus, medullary carcinoma of thyroid, pheochromocytoma
MEN 2B
RET oncogene GOF
**retinal hemangioblastoma
**bilateral renal cell carcinomas (bilateral flank pain)
**pheochromocytoma (adrenal gland tumor)
VHL : AD mutation deletion affecting chromosome 3p
**HIGH HEMOGLOBIN
Polycythemia Vera (JAK2 oncogene mutation GOF)
TSC1 mutation on chrom 9
TSC2 mutation on chrom 16
tuberous sclerosis
sturge weber- nonhereditary
somatic mosaicism of activating mutation in GNAQ gene
“constantly wringing hands together”, microcephaly, lack of eye contact, inability to speak
Rett syndrome - MECP2 mutation
deletion of short arm on chrom 5
cri du chat (cry of the cat), laryngeal hypoplasia, low set ears, microcephaly
produces glucagon, absence of this leads to hypoglycemia
what cell
alpha cells
located in fundus/body, produce pepsinogen
def = impaired protein breakdown
chief cells
produces somatostatin: inhibits gastrin, glucagon, insulin, secretin, PPP, VIP, serotonin, GH
delta cells
produce gastrin in antrum, duodenum, pancreas
stimulates secretion of gastric acid
G cells
produces intrinsic factor, important for absorption of vitamin b12 (def can cause spasticity/ lack of b12)
parietal cells
complex 1 inhibitor of ETC that is a pesticide (causes parkinson symptoms)
rotenone
complex 3 inhib that is found in fish poison, leads to resp depression, shock, pulmonary edema
Actimycin A
complex 4 inhibitors of ETC
cyanide, carbon monoxide
gait ataxia, kyphoscoliosis, hammertoes
friedrichs ataxia
GAA, frataxin gene chromosome 9
long narrow face, prominent ears,
CGG, FMR1 gene on X chromosome
what accumulates in fabrys? enzyme affected: a-galactosidase
globosides
what accumulates in gauchers? enzyme: B- glucosidase (glucocerebrosidase)
glucocerebrosides
what accumulates in krabbe? enzyme: B-galactosidase (galactocerebrosidase)
galactocerbrosides
what accumalates in niemann pick? enzyme: spingomyelinase
sphingomyelin
what accumulates in tay sachs? enzyme: B-hexosaminidase A
Ganglioside GM2
what accumulates in metachropic leukodystrophy? enzyme: arylsulfatase A
Sulfatides
“severe chest pain radiation to back between shoulders, bp difference btw arms, AR murmur”
*tall, thin, extremely long arms
Marfan syndrom, fibrillen 1 gene on chrom 15
ADPKD, a-thalassemia, and tuberous sclerosis are all affected on what chromosome
chrom 16
familial dysbetalipoproteinemia
-elevated everything except?
HDL (normal HDL)
Apo E defect
“super morbid obese”, short, hyperphagia, begins around 2 yo
deletion of paternal copy of chrom 15
prader willi
frequent bouts of laughter, “happy puppet syndrome”, by 1 yo
deletion of maternal copy of chromosome 15
angelman syndrome
myelin
chromatin clump
blebbing/fatty change
ribosome detachment
cellular swelling
reversible cellular injury
lysosomal rupture
mitochromial damage
nuclear condensation (pyknosis)
nuclear fragmentation (karyorrhexis)
nuclear dissolution (karyolysis)
irreversible cell injury
highest denaturing temperature base pairs (PCR) in the denaturation step (what base pairs require more heat to denature)
the one with the most G-C pairs (3 hydrogen bonds)
**A-T pairs have 2 hydrogen bonds
hematuria, unilateral non tender abdominal mass that does not cross midline (kidney tumor)
wilms tumor
deletion of WT1 gene on chromosome 11
medium chain acyl coa dehydrogenase deficiency
-jitters, sweating before feeds (hypoglycemia)
what is disease and what on urinalysis
MCAD
dicarboxylic acids on urinalysis
