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COMLEX/USMLE 1 > BIOCHEM > Flashcards

BIOCHEM Flashcards

1
Q

Cells derived from common myeloid progenitor

A

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

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2
Q

cells derived from common lymphoid progenitor

A

T lymphocytes, B lymphocytes, natural killer cells

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3
Q

immediate immune response to broadly conserved molecular motifs

(cytoplasmic receptor binding viral nucleic acids) or (cell surf rectors binding LPS in gram neg bacteria)

A

Innate immune response

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4
Q

the 3 Main APC’s are

A

dendritic cells, macrophages, activated B cells

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5
Q

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

A

APCs

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6
Q

what causes decreased level of CD4+ T cells, normal/slight dec of CD3+ T cells, and NORMAL CD8+ T cells?

A

MHC-II pathway defect in thymus

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7
Q

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

A

B cells

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8
Q

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

A

Complement

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9
Q

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

A

Mixed B cells and T cells defect

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10
Q

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

A

Phagocytes defect

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11
Q

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

A

T cells defect

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12
Q

what are MHC-restricted and must use receptors to bind peptide antigens that are presented in MHC molecules (I and II)

A

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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13
Q

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

A

MHC class II

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14
Q

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

A

MHC class I

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15
Q

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

A

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

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16
Q

amylo 1, 6 glucosidase (glycogen debrancher enzyme) def

A

GSD type 3, Cori

*hepatomegaly, failure to thrive, hypoglycemia

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17
Q

glucose 6 phosphatase def (G6P)

*inhibit conversion of lactate to pyruvate

A

GSD type 1, von gierke

*hypotonia, liver probs, hypoglycemia, lactic acidosis

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18
Q

alpha 1, 4 glucosidase def

A

GSD type 2, Pompe/acid maltase def

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

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19
Q

muscle phosphorylase def

A

GSD type 5, McArdle disease

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

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20
Q

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

A

Multiple sclerosis

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21
Q

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

A

Alzheimers dz

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22
Q

intraneuronal alpha synuclein inclusion bodies

A

Parkinsons/ Lewy body dementia

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23
Q

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

A

Hyper-IgM syndrome

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24
Q

defect in DNA DS break repair enzymes

A

Ataxia-telangiectasia (Louis bar syndrome)
IgA deficiency

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25
Q

defective phagosome-lysosome fusion in Neutrophils

A

Chediak-Higashi syndrome

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26
Q

what requires 3 OH group from the enzyme primase (DNA dep RNA polymerase)

A

DNA poly 3

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27
Q

the leading strand moves what direction in comparison to tuning fork

A

toward

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28
Q

what removes RNA primers and replaces with DNA

A

DNA poly 1

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29
Q

what is responsible for proofreading okazaki fragments

A

DNA poly 3

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30
Q

tightly coiled DNA are more or less active

A

less active

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31
Q

what is considered the glue of okazaki fragments

A

ligase

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32
Q

what does negative supercoiling

A

top

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33
Q

normal MCV, normal Fe 2+, normal transferrin
HIGH unconjugated bilirubin
HIGH lactate dehydrogenase
LOW haptoglobin
Reticulocytosis

A

Sickle Cell anemia - normocytic normochromic hemolytic anemia

**pain in hands

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34
Q

LOW MCV, LOW Fe 2+, LOW ferritin, HIGH transferrin, HIGH TIBC
Koilonychia, fatigue, glossitis, conjunctival pallor

A

Iron Deficiency Anemia- microcytic hypochromic

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35
Q

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

A

ROTOR syndrome (AR)

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36
Q

altered ability to transport bilirubin glucuronides into bile canalculi
-HIGH CONJUGATED Bilirubin
-NORMAL COPROPHYIN 1 IN URINE
-NORMAL Lactate Dehydrogenase
-LIVER IS BLACK

A

Dubin Johnson syndrome

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37
Q

decreased gluconuryl transferase enzyme
HIGH UNCONJUGATED BILIRUBIN

A

Gilbert syndrome

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38
Q

ABSENT gluconuryl transferase enzyme
HIGH UNCONJUGATED BILIRUBIN

A

Crigler-Najjar

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39
Q

potential to form stag horn calculi, also called magnesium ammonium phosphate

A

Struvite stones

(catheters)

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40
Q

target separation: RNA with formaldehyde
Probe: Labeled DNA that is complimentary to mRNA of interest
**How much RNA of interest is present

A

Northern Blot

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41
Q

target separation: genomic DNA cut with restriction enzymes
Probe: Labeled DNA that targets gene of interest
**to detect restriction fragments, organization of genes

A

Southern blot

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42
Q

target separation: Protein denatured with SDS
Probe: ANTIBODY against protein of interest
**How much PROTEIN of interest is present

A

Western blot

43
Q

LOW MCV, HIGH Fe 2+, HIGH Ferritin, LOW transferrin
microcytic hypochromic
coarse basophilic granules that stain POSITIVE for iron with prussian blue stain

A

Sideroblastic anemia

44
Q

Positive for DOG1 and CD117

A

GIST
(PDGFRA, and KIT mutations) - receptor tyrosine kinase

45
Q

APC suppressor gene mutation

A

Familial adenomatous polyps (FAP)

46
Q

MLH-1
POSITIVE for Pancytokeratin

A

Lynch syndrome (mismatch repair)- hered non polyp colorectal cancer syndrome

47
Q

CAG repeat

A

huntingtons, HTT gene on chrom 4

48
Q

CTG repeat

A

Myotonic Dystrophy- DMK gene

49
Q

GAA repeat

A

Friedrich’s Ataxia- FXN gene

50
Q

CGG repeat

A

Fragile X - FMR1 gene

51
Q

nondisjunction during meiosis is what syndrome

A

Downs - triploidy chromosome 21

52
Q

alpha galactosidase A def

A

Fabry (XLR)

53
Q

B-glucocerebrosidase def

A

Gaucher

54
Q

defect in Rb tumor suppressor gene
Rb inhibits G1-S progression of cell cycle, so a defect in this gene will INCREASE this

A

Retinoblastoma, A/W osteosarcoma

(“two hit”- AR) w/ both genes need to be affected for cancer to develop

55
Q

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

A

Alport Syndrome

56
Q

Type 6 collagen (classic type 1 of this dz)
in skin, hair, placenta

A

Ehler- Danlos

57
Q

type 4 collagen (acquired not hereditary) in basement membranes

A

goodpasture

58
Q

megaloblastic macrocytic anemia
hyperhsegmented neutrophils
increased homocysteine levels

what vitamin def

A

folate

59
Q

3 D’s: diarrhea, dermatitis, dementia
“symmetric red rash on sun exposed areas, neck necklace”

A

Pellagra- niacin deficiency

60
Q

microcytic anemia, sideroblastic anemia

what vit def

A

vitamin B6 pyridoxine

61
Q

normocytic anemia

what vit def

A

vitamin B2 (riboflavin)

62
Q

what test amplifies a desired DNA fragment, diagnostic tool of Neonatal HIV and herpes encephalitis

A

PCR

63
Q

assesses size, protein expression of individual cells in sample
*immunodeficiencies/hematologic abnormalities
(CD4+ t cell count)

A

flow cytometry

64
Q

compare transcription of genes in 2 RNA samples
(thousands)- cancer analysis

A

microarray

65
Q

detect an antibody/antigen in a patients blood
(screening)

A

ELISA

66
Q

direct visualization of chromosomal abnormalities/specific gene localization
(micro deletion, translocation, duplication) ex: trisomy 21

A

FISH

67
Q

diagnose chromosome imbalances
(trisomal, sex chromosomes)

A

karyotyping

68
Q

severe decrease of B and T cells
DEF OF ADENOSINE DEAMINASE

A

SCID

69
Q

chromosome deletion on long arm of 22q11
DEC CD3 T cells
hypocalcemia
cleft lip/palate, cardiac abnormalities

A

DiGeorge- thymic shadow, 3/4 pharyngeal pouches defect, tetralogy of fall, no parathyroid gland

70
Q

STAT3 mutation on chrom 17
HYPER IgE!!!!

A

Job syndrome (Hyper IgE) - severe eczema/recurrent infections

71
Q

parathyroid hyperplasia, medullary carcinoma of thyroid, pheochromocytoma (adrenal gland tumor)
MEN 2A

what mutation

A

RET oncogene GOF

72
Q

mucosal neuromas, marfanoid body habitus, medullary carcinoma of thyroid, pheochromocytoma
MEN 2B

A

RET oncogene GOF

73
Q

**retinal hemangioblastoma
**bilateral renal cell carcinomas (bilateral flank pain)
**pheochromocytoma (adrenal gland tumor)

A

VHL : AD mutation deletion affecting chromosome 3p

74
Q

**HIGH HEMOGLOBIN

A

Polycythemia Vera (JAK2 oncogene mutation GOF)

75
Q

TSC1 mutation on chrom 9
TSC2 mutation on chrom 16

A

tuberous sclerosis

76
Q

sturge weber- nonhereditary

A

somatic mosaicism of activating mutation in GNAQ gene

77
Q

“constantly wringing hands together”, microcephaly, lack of eye contact, inability to speak

A

Rett syndrome - MECP2 mutation

78
Q

deletion of short arm on chrom 5

A

cri du chat (cry of the cat), laryngeal hypoplasia, low set ears, microcephaly

79
Q

produces glucagon, absence of this leads to hypoglycemia

what cell

A

alpha cells

80
Q

located in fundus/body, produce pepsinogen

def = impaired protein breakdown

A

chief cells

81
Q

produces somatostatin: inhibits gastrin, glucagon, insulin, secretin, PPP, VIP, serotonin, GH

A

delta cells

82
Q

produce gastrin in antrum, duodenum, pancreas
stimulates secretion of gastric acid

A

G cells

83
Q

produces intrinsic factor, important for absorption of vitamin b12 (def can cause spasticity/ lack of b12)

A

parietal cells

84
Q

complex 1 inhibitor of ETC that is a pesticide (causes parkinson symptoms)

A

rotenone

85
Q

complex 3 inhib that is found in fish poison, leads to resp depression, shock, pulmonary edema

A

Actimycin A

86
Q

complex 4 inhibitors of ETC

A

cyanide, carbon monoxide

87
Q

gait ataxia, kyphoscoliosis, hammertoes
friedrichs ataxia

A

GAA, frataxin gene chromosome 9

88
Q

long narrow face, prominent ears,

A

CGG, FMR1 gene on X chromosome

89
Q

what accumulates in fabrys? enzyme affected: a-galactosidase

A

globosides

90
Q

what accumulates in gauchers? enzyme: B- glucosidase (glucocerebrosidase)

A

glucocerebrosides

91
Q

what accumulates in krabbe? enzyme: B-galactosidase (galactocerebrosidase)

A

galactocerbrosides

92
Q

what accumalates in niemann pick? enzyme: spingomyelinase

A

sphingomyelin

93
Q

what accumulates in tay sachs? enzyme: B-hexosaminidase A

A

Ganglioside GM2

94
Q

what accumulates in metachropic leukodystrophy? enzyme: arylsulfatase A

A

Sulfatides

95
Q

“severe chest pain radiation to back between shoulders, bp difference btw arms, AR murmur”

*tall, thin, extremely long arms

A

Marfan syndrom, fibrillen 1 gene on chrom 15

96
Q

ADPKD, a-thalassemia, and tuberous sclerosis are all affected on what chromosome

A

chrom 16

97
Q

familial dysbetalipoproteinemia
-elevated everything except?

A

HDL (normal HDL)
Apo E defect

98
Q

“super morbid obese”, short, hyperphagia, begins around 2 yo
deletion of paternal copy of chrom 15

A

prader willi

99
Q

frequent bouts of laughter, “happy puppet syndrome”, by 1 yo
deletion of maternal copy of chromosome 15

A

angelman syndrome

100
Q

myelin
chromatin clump
blebbing/fatty change
ribosome detachment
cellular swelling

A

reversible cellular injury

101
Q

lysosomal rupture
mitochromial damage
nuclear condensation (pyknosis)
nuclear fragmentation (karyorrhexis)
nuclear dissolution (karyolysis)

A

irreversible cell injury

102
Q

highest denaturing temperature base pairs (PCR) in the denaturation step (what base pairs require more heat to denature)

A

the one with the most G-C pairs (3 hydrogen bonds)

**A-T pairs have 2 hydrogen bonds

103
Q

hematuria, unilateral non tender abdominal mass that does not cross midline (kidney tumor)

A

wilms tumor
deletion of WT1 gene on chromosome 11

104
Q

medium chain acyl coa dehydrogenase deficiency
-jitters, sweating before feeds (hypoglycemia)

what is disease and what on urinalysis

A

MCAD
dicarboxylic acids on urinalysis

COMLEX/USMLE 1 (17 decks)

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