BIOCHEM Flashcards by Alexis McKay

Cells derived from common myeloid progenitor

macrophages, granulocytes (neut, eosin, baso, mast), erythrocytes, platelets

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cells derived from common lymphoid progenitor

T lymphocytes, B lymphocytes, natural killer cells

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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

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the 3 Main APC’s are

dendritic cells, macrophages, activated B cells

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what performs presentation of extracellular peptide antigens to CD4+ T cells in MHC-II

APCs

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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

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what is defected in bruton agammaglobinemia, common variable immunodeficiency, IgA deficiency?

B cells

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what is defected in C1 esterase inhibitor def, C3 deficiency, terminal complement deficiency

Complement

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-Ataxia telang syndrome
-Hyper-IgM syndrome
-Severe combined immunodefiency
-wiskott-aldrich syndrome

Mixed B cells and T cells defect

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-Chediak-higashi syndrome
-chronic granuloma disease
-leukocyte adhesion def
-myeloperoxidase def
-severe congenital neutropenia

Phagocytes defect

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-chronic mucocutaneous candida
-DiGeorge syndrome
-Hyper-IgE syndrome (job)
-IL-12 receptor def
-IPEX syndrome

T cells defect

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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)

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CD4+ T cells bind EXTRACELLULAR PEPTIDE ANTIGENS presented by APCs in …..

MHC class II

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CD8+ T cells bind CYTOPLASMIC PEPTIDE ANTIGENS presented by ALL NUCLEATED CELLS in….

MHC class I

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amlyo (1,4- 1,6) transglucosidase (glycogen branching enzyme) def

GSD type 4, Anderson disease
*hepatosplenomegaly, hypoglycemia, esophageal varices/cirrhosis/ascites

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amylo 1, 6 glucosidase (glycogen debrancher enzyme) def

GSD type 3, Cori

*hepatomegaly, failure to thrive, hypoglycemia

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glucose 6 phosphatase def (G6P)

*inhibit conversion of lactate to pyruvate

GSD type 1, von gierke

*hypotonia, liver probs, hypoglycemia, lactic acidosis

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alpha 1, 4 glucosidase def

GSD type 2, Pompe/acid maltase def

*myopathy, hypotonia, resp distress, fail to thrive, cardiomegaly in early childhood

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muscle phosphorylase def

GSD type 5, McArdle disease

*presents early adult, exercise intolerance, fatigue, cramps, poor endurance
*^^ creatine kinase, myoglobinuria, rhabdomyolysis

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demyelination from injury to oligodendrocytes
-Lhermitte sign (electric shock down neck and arm)

Multiple sclerosis

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extracellular protein aggregation
-abnormal beta amyloid protein accumulation as amyloid plaques

Alzheimers dz

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intraneuronal alpha synuclein inclusion bodies

Parkinsons/ Lewy body dementia

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defective CD40L
inability to class switch
NORMAL levels of B and T lymphocytes

Hyper-IgM syndrome

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defect in DNA DS break repair enzymes

Ataxia-telangiectasia (Louis bar syndrome)
IgA deficiency

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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