biochem

Question 1

rate limiting enzyme: glycolysis

Answer 1

phosphofructokinase 1

Question 2

gluconoegenesis

Answer 2

fructose- 1,6- bisphosphatases

Question 3

TCA cycle

Answer 3

isocitrate dehydrogenase

Question 4

glycogenesis

Answer 4

glycogen synthase

Question 5

glycogenolysis

Answer 5

glycogen phosphorylase (McArdle’s Dz)

Question 6

HMP shunt

Answer 6

glucose 6 phsophate dehydrogenase

Question 7

de novo pyramidine synthesis

Answer 7

(C,T,U)

carbamoyl phosphate synthetase II

Question 8

de novo purine synthesis

Answer 8

(A,G)

glutamine- phsophoribosylpyrophosphate (PRPP) amidotranferase

Question 9

urea cycle

Answer 9

crbamyol phospate synthetase I

Question 10

fatty acid synthesis

Answer 10

acetyl Co-A carboxylase (ACC)

Question 11

fatty acid oxidation

Answer 11

carnitine acyltranferase I

Question 12

ketogenesis

Answer 12

HMG- CoA synthase

Question 13

cholestrol synthesis

Answer 13

HMG - CoA reductase.

Question 14

codominance

Answer 14

both alleles contribute to the phentype of the heterzygote.

ex blood groups

Question 15

variable expressivity

Answer 15

phenotype varies among individuals with same gentotype.

ex. two people with NF1 have varying dz severity

Question 16

incomplete pentrance

Answer 16

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

Question 17

pleiotropy

Answer 17

one gene contributes to multiple phenotypes.

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

Question 18

anticipation

Answer 18

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

Question 19

loss of heterozygosity

Answer 19

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

Question 20

dominant negative mutation

Answer 20

heterzygous will also made a nonfunctional altered protein

Question 21

linkage disequlibrium

Answer 21

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.

Question 22

mosaicism

Answer 22

. 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.

Question 23

locus heterogeneity

Answer 23

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.

Question 24

allelic heterogeneity

Answer 24

different mutations in the SAME LOCUS but give DIFFERENT PHENOTYPE

ex: B- thal

Question 25

heteroplasmy

Answer 25

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.

Question 26

cervical LNs drain?

Answer 26

head and neck

Question 27

hilar LNs drain ?

Answer 27

Lungs

Question 28

mediastinal LNs drain?

Answer 28

trachae and esophagus

Question 29

axillary LNs drain?

Answer 29

upper limbs, breast, skin above belly button

Question 30

celiac LNs drain?

Answer 30

liver, stomach, spleen, pancreas, upper duodemun

Question 31

superior mesenteric LNs drain?

Answer 31

lower duodenum, J, I, colon to splenic flexure

Question 32

inferior mesentaric LNs drain?

Answer 32

colon from splenic flexure --> upper rectum

Question 33

internal iliac LNs drain

Answer 33

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

Question 34

para-aortic LNs drain

Answer 34

testes ovaries kidney uterus

Question 35

superficial inguinal LNs drain?

Answer 35

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

Question 36

popliteal LNs drain?

Answer 36

dorsolat foot | post calf.

Question 37

right lymphatic duct vs thoracic duct?

Answer 37

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.

Question 38

right lymphatic duct vs thoracic duct?

Answer 38

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.

Question 39

spleen. where are the B cells?

Answer 39

white pulp.

Question 40

spleen. where are the T cells?

Answer 40

PALS: periarterial lymphatic sheath in the white pulp.

Question 41

spleen. where are the T cells?

Answer 41

PALS: periarterial lymphatic sheath in the white pulp.

Question 42

HLA A3

Answer 42

hemochromotosis

Question 43

HLA B27

Answer 43

``` MHC class 1 psoriatic arthritis ankylosing spondylitis IBD: UC, Crohns, reactive arthritis ```

Question 44

DQ2/DQ8

Answer 44

celiac dz

Question 45

DR2

Answer 45

MS hay fever SLE Goodpastures

Question 46

DR3

Answer 46

DM1 SLE Graves

Question 47

DR4

Answer 47

RA | DM1

Question 48

DR5

Answer 48

pernicious anemia | hashimotos

Question 49

DR5

Answer 49

pernicious anemia | hashimotos

Question 50

IL12

Answer 50

T cell into Th1 | (+) NK cells

Question 51

IL3

Answer 51

stimiate differentation and growh of BM. like GM-CSF

Question 52

MHC1

Answer 52

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

Question 53

IL 4

Answer 53

``` class switch to IgE induce differentiation into Th2 cell. ```

Question 54

IL5

Answer 54

``` class switch to IgA. differentiation and growth of eisinophils ```

Question 55

IL12

Answer 55

T cell into Th1 | (+) NK cells

Question 56

anti- Jo-1

Answer 56

polymyositis, dermatomyositis

Question 57

anti-SRP

Answer 57

polymyositis, dermatomyositis

Question 58

anti- MI-2

Answer 58

polymyositis, dermatomyositis

Question 59

anti-cardiolipin

Answer 59

SLE, | antiphospholipid syndrome

Question 60

antimicrosomal, antithryoglobulin

Answer 60

hasamotos

Question 61

anti-scl-70

Answer 61

these are anti-topoispmerase: diffuse scleroderma

Question 62

anti-ribonuclearprotein

Answer 62

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

Question 63

ApoA-I

Answer 63

LCAT activation to esterify cholestrol ApoA1 is found on Chylomicrons

Question 64

ApoB48

Answer 64

Chylomicron assembly and secretion by GI ApoB48 is found on chylomicrons and chylomicron reminant

Question 65

ApoB100

Answer 65

LDL particle uptake by extrahepatic cells via LDL R. ApoB100 is found in VLDL, IDL, LDL

Question 66

ApoCII

Answer 66

LPL activation on endothelial cells ApoCII is found on chylomicrons, HDL, VLDL

Question 67

ApoE3, ApoE4

Answer 67

VLDL and chylomicron remnant uptake by liver found on all except LDL.