Exam 1 Proteins/genes

Question 1

memory b cells

Answer 1

the ones that harbor EBV are transformed cells and are able to reactivated a virus and to shed viral particles

Question 2

ebna 1

Answer 2

involved in promoting viral dna replication

Question 3

ebna 2

Answer 3

• transcription factor with viral and host cell targets

Question 4

lmp 1

Answer 4

expression in rodent cell lines results in transformation

Question 5

lmp 2

Answer 5

associates with src and several other tyrosine kinases

Question 6

lmp

Answer 6

latent membrane proteins

Question 7

lmp 1

Answer 7

expression in transgenic mice leads to b cell lymphoma; b cell proliferation, upregulates adhesion molecules, inhibits apoptosis. It is a ebv carried oncogene

Question 8

lmp 1 signalling

Answer 8

stimulates akt, nf-kb, and stat3 pathways

Question 9

fibrilin

Answer 9

• connective tissue protein that makes up part of microfibrils which make up elastic fibers

Question 10

Hla b27

Answer 10

allele associated with ankylosing spondylitis, increased frequency observed in AS, reiters disease, backache, and gram negative reactive arthritis. Only happens in 1-5%

Question 11

NOD2 gene

Answer 11

associated with inflammatory bowel disease

Question 12

MDP

Answer 12

activates nod2 stands for bacterial peptidoglycan muramyl dipeptide

Question 13

APP

Answer 13

amyloid precursor protein, membrane protein that sits in the membrane and extends outward

Question 14

beta amyloid plaque

Answer 14

beta amyloid fragments are sticky forming the plaques seen in the AD brain

Question 15

presenillin

Answer 15

proteins that are part of the gamma secretase complex, which snips fragments off amyloid peptide into the extracellular space where it forms plaques

Question 16

PSEN 1/2

Answer 16

mutations lead to a gain of toxic function, partial loss of the gamma secretase complex function. Affects several downstream signaling pathways

Question 17

apolipoprotein E4

Answer 17

major risk factor for multifactorial alzheimers, binds to A beta in cerebrospinal fluid. Found in plaques in AD brains

Question 18

chromosome 19

Answer 18

has a gene on it that encodes apo e4

Question 19

ACE

Answer 19

angiotensin converting enzyme, plays a major role in CAD through regulation of blood pressure. Angtiotensin 1+ ACE= angiotensin 2= increase of blood pressure

Question 20

insulin

Answer 20

decrease plasma glucose

Question 21

hormones that increase plasma glucose

Answer 21

glucagon, epinephrine, cortisol, growth hormone

Question 22

advanced glycation end products

Answer 22

• AGEs, adducts formed from the non enzymatic reaction of proteins with glucose

Question 23

HbA1C

Answer 23

biomarkers used to quantify AGE products eliminated by kidney

Question 24

IDDM1 locus

Answer 24

associated with type 1 diabetes, in the hla region, risks increases

Question 25

IDDM2 locus

Answer 25

• insulin gene, allele reduces expression of insulin in fetal thymus, reducing immunotolerance to insulin and pancreatic island cell later in life

Question 26

s-hscr

Answer 26

short segment. affects the rectum and small portion of the colon, 60-85% of cases

Question 27

l-hscr

Answer 27

affects longer portion of the intestine. More severe than s-hscr and relatives are under larger risk. long segment

Question 28

MTHFR C

Answer 28

leads to T mutation, polymorphism

Question 29

Valine

Answer 29

val, known codon to resist mutations more than others, GUU, GUA, GUC, GUG

Question 30

CFTR protein

Answer 30

Cl- channel, when it doesn’t make it to membrane and gets degraded then cystic fibrosis

Question 31

DARC

Answer 31

• duffy blood group, chemokine receptor, locus showing the location of mutation at -46 that abolishes transcription in RBC’s

Question 32

LCT gene

Answer 32

lactose intolerance in adults, normally downregulated in adulthood

Question 33

Promoter mutation C/T 13910

Answer 33

located on the position -13 upstream of the lactase gene that has made part of mankind tolerate milk

Question 34

MCM6 gene

Answer 34

intron where all 4 mutations influencing lactose production are found

Question 35

PDYN locus

Answer 35

• prodynorphin, encodes opioid neuropeptide precursor for endogenous ligands for opiate receptor. Balances pleasure genes, mutation here down regulates pleasure control, produces for addiction. Mediate the anticipation and experience of pain, influence social attachment and bonding behavior, affect learning and memory

Question 36

FMR1 gene

Answer 36

when suppressed by unstable repeat expansion results in fragile X syndrome

Question 37

TP53 gene

Answer 37

tumor suppressor gene, a guardian of genome, encodes a product p53 that acts as a tetramer to regulate gene expression

Question 38

benzapyren

Answer 38

polycyclic aromatic hydrocarbon with confirmed carcinogenic activity. Product of combustion processes, converted from promutagen, metabolic product binds to dna forming an adduct

Question 39

thymine dimers

Answer 39

block replication, caused by UV radiation

Question 40

human HPRT gene

Answer 40

located on chromosome X, encodes hypoxanthine phosphor ribosyl transferase, normal function is metabolic salvage of the purines into nucleotides, inosinic acid, and guanylic acid

Question 41

oltpraz

Answer 41

an inducer of phase 2 metabolizing enzymes, significantly increased biomarkers of aflatoxin detoxification

Question 42

Chk2

Answer 42

• involved in control of both the G1/s and G2/m cell cycle checkpoints

Question 43

Ebv’s antiapoptopic viral genes

Answer 43

provide a survival advantage to the lymphocyte that carries ebv

Question 44

mutant proteins

Answer 44

often act as competitive inhibitors. Example is p53