biochem Flashcards

1
Q

rate limiting enzyme: glycolysis

A

phosphofructokinase 1

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2
Q

gluconoegenesis

A

fructose- 1,6- bisphosphatases

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3
Q

TCA cycle

A

isocitrate dehydrogenase

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4
Q

glycogenesis

A

glycogen synthase

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5
Q

glycogenolysis

A

glycogen phosphorylase (McArdle’s Dz)

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6
Q

HMP shunt

A

glucose 6 phsophate dehydrogenase

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7
Q

de novo pyramidine synthesis

A

(C,T,U)

carbamoyl phosphate synthetase II

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8
Q

de novo purine synthesis

A

(A,G)

glutamine- phsophoribosylpyrophosphate (PRPP) amidotranferase

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9
Q

urea cycle

A

crbamyol phospate synthetase I

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10
Q

fatty acid synthesis

A

acetyl Co-A carboxylase (ACC)

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11
Q

fatty acid oxidation

A

carnitine acyltranferase I

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12
Q

ketogenesis

A

HMG- CoA synthase

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13
Q

cholestrol synthesis

A

HMG - CoA reductase.

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14
Q

codominance

A

both alleles contribute to the phentype of the heterzygote.

ex blood groups

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15
Q

variable expressivity

A

phenotype varies among individuals with same gentotype.

ex. two people with NF1 have varying dz severity

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16
Q

incomplete pentrance

A

not all individuals with a mutant genotype show the mutant phenotype
skips a generation.
in a population. not at a cellular level

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17
Q

pleiotropy

A

one gene contributes to multiple phenotypes.

ex: PKU has light skin, musty body odor and intellectual disability

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18
Q

anticipation

A

increased severity or earlier onset of disease in succeeding genetrations
ex: all trinucleotide repeat dz. Huntington, fragile X, friedreich ataxia. mytonic dystrophy

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19
Q

loss of heterozygosity

A

mutation in a tumor suppressor gene, the other allele must be deleted to devo cancer.
Retinoblastoma - two hit hypothesis

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20
Q

dominant negative mutation

A

heterzygous will also made a nonfunctional altered protein

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21
Q

linkage disequlibrium

A

certain alleles at 2 LINKED loci occur together more often than expected. this does NOT imply physical proximity of genes. genes can be on different chr.

population. not family.

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22
Q

mosaicism

A

. genetically distinct cell lines in the same person. mitotic error AFTER fertilization.

somatic (multiple tissue organs) vs. gonadal (on egg or sperm affected)
ex: mccune albright syndrome; lethal if it is somatic. survivable if mosaic.

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23
Q

locus heterogeneity

A

mutation at DIFFENENT LOCI but produce SAME PHNEOTYPE. ex: albinism.
marfans, MEN2B, homocystenuria all are due to different genes but all have marfanoid body habitus.

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24
Q

allelic heterogeneity

A

different mutations in the SAME LOCUS but give DIFFERENT PHENOTYPE

ex: B- thal

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25
Q

heteroplasmy

A

presence of both normal and mutant mtDNA. variable expression of mitochondrial inherited dz.
@ a cellular level, you have both normal and abnormal mito in the same cell.

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26
Q

cervical LNs drain?

A

head and neck

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27
Q

hilar LNs drain ?

A

Lungs

28
Q

mediastinal LNs drain?

A

trachae and esophagus

29
Q

axillary LNs drain?

A

upper limbs, breast, skin above belly button

30
Q

celiac LNs drain?

A

liver, stomach, spleen, pancreas, upper duodemun

31
Q

superior mesenteric LNs drain?

A

lower duodenum, J, I, colon to splenic flexure

32
Q

inferior mesentaric LNs drain?

A

colon from splenic flexure –> upper rectum

33
Q

internal iliac LNs drain

A

lower rectum to anal canal (above the pectinate line)
bladder
vagina (middle 3rd) prostate

34
Q

para-aortic LNs drain

A

testes
ovaries
kidney
uterus

35
Q

superficial inguinal LNs drain?

A

anal canal (below to pectinate line) skin below the umblicus (except popliteal territory)

36
Q

popliteal LNs drain?

A

dorsolat foot

post calf.

37
Q

right lymphatic duct vs thoracic duct?

A

R lymphatic duct drains the right half of the body above the diaphragm. the rest is done by the thoracic duct. at the angle of the L subclavian and internal jugular vein.

38
Q

right lymphatic duct vs thoracic duct?

A

R lymphatic duct drains the right half of the body above the diaphragm. the rest is done by the thoracic duct. at the angle of the L subclavian and internal jugular vein.

39
Q

spleen. where are the B cells?

A

white pulp.

40
Q

spleen. where are the T cells?

A

PALS: periarterial lymphatic sheath in the white pulp.

41
Q

spleen. where are the T cells?

A

PALS: periarterial lymphatic sheath in the white pulp.

42
Q

HLA A3

A

hemochromotosis

43
Q

HLA B27

A
MHC class 1
psoriatic arthritis
ankylosing spondylitis
IBD: UC, Crohns,
reactive arthritis
44
Q

DQ2/DQ8

A

celiac dz

45
Q

DR2

A

MS
hay fever
SLE
Goodpastures

46
Q

DR3

A

DM1
SLE
Graves

47
Q

DR4

A

RA

DM1

48
Q

DR5

A

pernicious anemia

hashimotos

49
Q

DR5

A

pernicious anemia

hashimotos

50
Q

IL12

A

T cell into Th1

(+) NK cells

51
Q

IL3

A

stimiate differentation and growh of BM. like GM-CSF

52
Q

MHC1

A

found on all cellsEXCEPT RBS
(+) CTLs
HLA- a,b,c
ENDOGENOUS antigen loaded on the MHC1 in RER after delivery via TAP peptide transporter

53
Q

IL 4

A
class switch to IgE
induce differentiation into Th2 cell.
54
Q

IL5

A
class switch to IgA.
differentiation and growth of eisinophils
55
Q

IL12

A

T cell into Th1

(+) NK cells

56
Q

anti- Jo-1

A

polymyositis, dermatomyositis

57
Q

anti-SRP

A

polymyositis, dermatomyositis

58
Q

anti- MI-2

A

polymyositis, dermatomyositis

59
Q

anti-cardiolipin

A

SLE,

antiphospholipid syndrome

60
Q

antimicrosomal, antithryoglobulin

A

hasamotos

61
Q

anti-scl-70

A

these are anti-topoispmerase: diffuse scleroderma

62
Q

anti-ribonuclearprotein

A

these are anti-U1 RNP: SLE, mixed connective tissue dz

63
Q

ApoA-I

A

LCAT activation to esterify cholestrol

ApoA1 is found on Chylomicrons

64
Q

ApoB48

A

Chylomicron assembly and secretion by GI

ApoB48 is found on chylomicrons and chylomicron reminant

65
Q

ApoB100

A

LDL particle uptake by extrahepatic cells via LDL R.

ApoB100 is found in VLDL, IDL, LDL

66
Q

ApoCII

A

LPL activation on endothelial cells

ApoCII is found on chylomicrons, HDL, VLDL

67
Q

ApoE3, ApoE4

A

VLDL and chylomicron remnant uptake by liver

found on all except LDL.