First Aid: Bio Chem: Pg 68-84

Front 1

Why does DNA exist in a dense chromatin form?

Back 1

So it can fit in the nucleus (tiny space)

Front 2

What are nucleosomes?

Back 2

DNA wrapped twice around some positively charged histomes (8 of them)

Front 3

What does H1 histome do in terms of a nucleosome?

Back 3

connect them together like beads on a string

Front 4

What is Heterochromatin

Back 4

inactive, inaccessible chromatin, very condensed.... so fuck off

Front 5

What is Euchromatin

Back 5

accessible chromatin... start transcripting

Front 6

Histone Acetylation does what?

Back 6

relaxes dna coiling so one can transcripit it.... duh

Front 7

Purines... what are they and how many rings

Back 7

A G
2 rings

Front 8

Pyrimidines... what are they and how many rings

Back 8

C T U
1 ring

Front 9

What Amino Acids are required for purine synthesis?

Back 9

Glycine
Aspartate
Glutamine

Front 10

What the difference between a nucleoside and nucleotide? Other then the t and s

Back 10

side= base + ribose
tide= base + ribose + phosphaTe

Front 11

What happens if you have a ornithine transcarbamoylase deficiency?
Hint: key enzyme with urea cycle

Back 11

accumulation of carbamoyl phosphate which turns into orotic acid
Orotic Aciduria: autosomal recessive, megablastic anemia (b12 doesn't help), failure to thrive.

Front 12

Adenosine deaminase deficiency?

part of purine salvage

Back 12

inhibits ribonucleotide reductase indirectly
prevents dna synthesis
decrease lymphocyte count
Part of SCID (bubble boy disease)

Front 13

Lesch-Nyhan snydrome?

Purine salvage issue

Back 13

Absense of HGPRT ( converts IMP+guanine= GMP)
excessive uric acid productions
S&S- retardation, self mutilation, aggression, choreoathetosis and oh yea gout.

Front 14

What is a Missense DNA mutation?

Back 14

change AA but new AA is similar to old one

Front 15

What is a Nonsense DNA mutation?

Back 15

change results in a stop condon

Front 16

What is a Frame shift DNA mutation?

Back 16

affects all reading downstream of it. Everything is messed up and usually you get a nonfunctional protein.

Front 17

Helicase does what with DNA replication?

Back 17

Unwinds the DNA.... remember the joke I wish i was helicase so I can unzip your genes?

Front 18

DNA topoisomerases?

Back 18

Makes a nick in the DNA during replication to relieve supercoils

Front 19

What happens if you have Xeroderma pigmentosum?

Back 19

mutated Nucleotide excision repair, cant protect from UV light

Front 20

When do you have a mutation in mismatch DNA repair

Back 20

With Hereditary nonpolyposis colorectal cancer (HNPCC)

Front 21

When does Non homologous end joining DNA repair get mutated?

Back 21

Ataxia Telangiectasia ( do you have any idea what this is?)

the repair brings two DNA fragments together.

Front 22

Rampant, Massive, Tiny is a way to remember what?

Back 22

rRNA= rampant, most abundant
mRNA= massive, longest
tRNA= tiny, smallest

Front 23

What are the mRNA start codons?
What are the mRNA stop condons

Back 23

AUG or GUG

UGA, UAA, UAG

Front 24

Promoter (in terms of gene expression, not the assholes who do nothing with their lives)

Back 24

site where everything binds to DNA upstream from gene locus
TATA and CAAT boxes
mutation will decrease amount of gene transcribed

Front 25

RNA polymerase I, II and III do what?

Back 25

I= makes rRNA
II= makes mRNA, also opens DNA at promoter site
III= makes tRNA

Front 26

You will make antibodies for snRNPs with what

snRNPs form splicesomes in pre-mRNA

Back 26

Lupus

Front 27

Whats the difference between introns and exons?

Back 27

Exons are actual genetic coding for proteins while introns are noncoding segments

Front 28

What does tRNA code always end with?

Back 28

CCA

Front 29

What are tumor suppressor genes and when are they activated?

Back 29

Rb and p53
Stop G1 from progressing to S1 stage
Mutations cause uncontrolled growth

Front 30

Whats the difference between Permanent, Stable and Labile cell types in terms of cell cycle

Back 30

Permanent= remain in G0 (cardiac and neurons)
Stable= Enter G1 if stimulated ( hepatocytes and lymphocytes)
Labile= divide rapidly with short G1 (bone marrow, gut, skin)

Front 31

What does the Rough Endoplasmic Reticulum do?

Back 31

Site of synthesis of exported proteins
found in antibodiy plasma cells and goblet cells in abundance

Front 32

What does the smooth endoplasmic reticulum do?

Back 32

Site of steroid synthesis and detox of drugs and poisons.
Abundant in hepatocytes and adrenal cortex cells

Front 33

What is I cell disease?

Back 33

inherited lysosomal storage disorder.
failure to add mannose-6-phosphate in golgi
S&S- coarse facial features, joint issues, fatal in childhood

Front 34

Proteins tagged with ubiquitin go where?

Back 34

Proteasome to be degraded and destroyed.

Front 35

In which directions do Dynein and Kinesin work?

Back 35

Dynein= retrograde
Kinesin= Anterograde

Front 36

What is Chediak-Higashi syndrome?

Back 36

defect in microtubule polymerization.
decrease fusion of lysosomes and phagosomes.
S&S- infections, partial albinsim, peripheral neuropathy

Front 37

What is Kartagener's syndrome?

Back 37

immobile cilia due to dynein arm defect.
S&S infertility, recurrent sinusitis
associated with situs inversus (reverse organs)

Front 38

How does the Sodium pump work?
How does Ouabain affect it/

Back 38

3Na out for every 2K bought in.
Inhibited by Ouabain by binding to the K site

Front 39

What does Cardiac glyosides do in terms of sodium pump?

Back 39

Increase cardiac contractility by inhibiting the pump causing indirect increase of Ca

Front 40

Collagen... 4 types (1-4) what do they do?

Back 40

Type I- 90% bone, skin, tendon, late wound repair,
Type II- Cartilage, nucleus pulposus
Type III- Reticulin, skin, blood, vessels, uterus,
Type IV- basement membrane or basal lamina

Front 41

Alport syndrome has a defect in what type of collagen?

Back 41

Type IV

Front 42

What vitamin in required in order to make procollagen?

Back 42

Vit C

Front 43

Osteogenesis Imperfecta... Go!

Back 43

brittle bone disorder, abnormal type 1 collagen
Blue sclerae due to transparent connective tissue.
hearing loss
Type II OI is fatal in utero pretty mcuh

Front 44

Ehlers- Danlos syndrome

Back 44

Faulty collagen synthesis. Type III most common.
Stretchy skin, bleed easily, hypermobile joints.
May have organ rupture

Front 45

Alport Syndrome S&S

Back 45

hereditary nephritis
deafness
ocular issues
(type IV collagen issues)