Xxx - Bchm I

Front 1

Histone octamer subunits of chromatin contain what positively charged AA's?

Back 1

Lysine
Arginine

Front 2

Which chromatin type is inaccessible, inactive, and condensed?

Back 2

Heterochromatin
(Highly Condensed = Hetero Chromatin)

Front 3

Purines have how many rings?

Pyrimidines have how many rings?

Back 3

2

1

Front 4

Which nucleotide has a KETONE functional group?

Back 4

Guanine

Front 5

Which nucleotide has a METHYL functional group?

Back 5

Thymine

(meTHYl in THYmine)

Front 6

URACIL

- made from what nucleotide?
- via what reaction?

Back 6

- Cytosine

- Deamination

Front 7

PURINES

- requires what AA's?
- requires what non-AA's?

Back 7

- Glycine
- Aspartate (acid)
- Glutamate (base)

- N10-Formyl-Tetrahydrofolate (x2)
- Carbon Dioxide (CO2)

Front 8

PYRIMIDINES

- requires what AA's?
- requires what non-AA's?

Back 8

- Aspartate

- Carbamoyl Phosphate

Front 9

PURINES

- precursor?
- PRPP comes before or after?

Back 9

(Pure as PIMP)

- IMP
- comes (made) BEFORE precursor

Front 10

PYRIMIDINES

- precursor?
- PRPP comes before or after?

Back 10

(Pyr-O Acid)

- Orotic acid (orotate)
- comes (added) AFTER to precursor

Front 11

Back 11

Front 12

Back 12

Front 13

Inborn Error of Metabolism

- increased accumulation of Carbamoyl Phosphate & Orotic Acid (b/c CP converts to OA) AND involves the UREA CYCLE

Back 13

- Ornithine Transcarbomylase Deficiency

(OTC Def. = Observe The Cycle)

Front 14

Inborn Error of Metabolism

- increased accumulation of Orotic Acid AND involves the DE NOVO PYRIMIDINE SYNTHESIS

Back 14

- Orotic Aciduria

Front 15

OTC Deficiency vs. Orotic Aciduria

- whats elevated in both?
- whats elevated in one, but not the other

Back 15

- Orotic Acid elevated in both

- Hyperammonemia in OTC Deficiency
(not seen in orotic aciduria)

Front 16

OROTIC ACIDURIA

- etiology?

Back 16

Defect in either one of:

- Orotic acid phosphoribosyltransferase
(Orotic Acid PRTase)

- Orotidine 5-Phosphate Decarboxylase
(OPD)

Front 17

OROTIC ACIDURIA

- what type of anemia is seen?
- what is seen with this anemia?

Back 17

- Megaloblastic anemia

- does not improve with B12 nor Folate

Front 18

OROTIC ACIDURIA

- inheritance pattern?

Back 18

- Autosomal Recessive

Front 19

OROTIC ACIDURIA

- Treatment

Back 19

PO Uridine

Front 20

Increased Orotic Acid
&
Normal Ammonia

Back 20

Orotic Aciduria

(O A = Absence of hyperAmmonemia)

Front 21

Increased Orotic Acid
&
Hyperammonemia

Back 21

OTC Deficiency

(O TC = Totally Colossal ammonia)

Front 22

List 2 Purine Salvage diseases

Back 22

- ADA Deficiency
- Lesch-Nyhan syndrome

Front 23

ADA Deficiency

- excess imbalance of what?
- what causes this imbalance?

Back 23

- ATP & dATP imbalances

- due to Feedback Inhibition of Ribonucleotide Reductase

Front 24

ADA Deficiency

- change in what levels?

Back 24

- decreased DNA synthesis

- decreased lymphocyte count
(both T & B lymphocytes)

Front 25

Lesch-Nyhan Syndrome

- etiology

Back 25

- defective HGPRTase

Front 26

Lesch-Nyhan Syndrome

- change in what levels?

Back 26

- increased Uric Acid production

Front 27

HGPRTase has what functions?

Back 27

Converts
- Hypoxanthine to IMP
- Guanine to GMP

Front 28

What DNA mutation manifests the same AA?

Why?

Back 28

- Silent mutation

- b/c base change often occurs on 3rd position of codon (tRNA wobble)

Front 29

What DNA mutation manifests conservatively into a different AA similar in chemical structure?

Back 29

- Missense mutation

Front 30

What DNA mutation manifests in an early STOP Codon?

Back 30

- Nonsense mutation

(STOP the Nonsense)

Front 31

What DNA mutation manifests in truncated, nonfunctional protein?

Back 31

- Frameshift mutation

Front 32

Severity of Damage with DNA mutations

Back 32

Nonsense > Missense > Silent

Front 33

DNA Topoisomerase

- function?
- AKA in Prokaryotes

Back 33

- Nicks helix to relieve supercoils

- Gyrase
(specific prokaryote topoisomerase)

Front 34

DNA Polymerase I, II, & III is seen in what organisms?

Back 34

- Prokaryotes

Front 35

DNA Polymerase I

- Function

Back 35

- Degrades RNA Primer
- Fills in gaps with DNA

(RNA-Dependent DNA Polymerase)

Front 36

DNA Polymerase I

- exonuclease activity direction

Back 36

5' --> 3'

Front 37

DNA Polymerase III

- exonuclease activity direction

Back 37

3' --> 5'

Front 38

Repair mechanism damaged in HNPCC

Back 38

Mismatch repair

Front 39

Repair mechanism damaged in Xeroderma Pigmentosa

Back 39

Nucleotide Excision repair

Front 40

In Xeroderma Pigmentosa, what structures can not be repaired within the DNA?

Back 40

Thymidine Dimers

Front 41

Base Repair Mechanism

- protein recognizing/removing damaged bases?
- what makes the cut on the DNA?
- DNA is cut where?

Back 41

- Gycosylases

- AP Endonucleases

- Apyrimidinic site

Front 42

Mismatch Repair Mechanism

- how does it recognize the mismatch nucleotides located on the NEWLY SYNTHESIZED DNA string?

Back 42

- Unmethylated DNA is recognized

(unmethylated DNA is new DNA)

Front 43

RNA Polymerase I, II, & III are seen in which organisms?

Back 43

Eukaryotes

Front 44

In Eurkaryotes, which RNA Polymerase has proofreading abilities?

Back 44

none

Front 45

In Eukaryotes, which RNA Polymerase opens DNA at the promoter site?

Back 45

RNA Polymerase II

Front 46

Ingestion of Alpha-Amantin

- affects which enzyme?
- causes what disease?

Back 46

- RNA Polymerase II

- Liver Failure

Front 47

Spliceosomes are formed when what combines together?

Back 47

- RNA transcript
- snRNPs
- other proteins

Front 48

SPLICING

- Release of Lariat removes what?
- Release of Lariat also joins what?

Back 48

- Intron

- Exon

Front 49

Antibodies to spliceosome snRNPs are seen in what disease?

Back 49

SLE

Front 50

Introns vs. Exons

- which is cleaved out of spliceosome?
- which is expressed in to protein?

Back 50

- Introns

- Exons

Front 51

Introns vs. Exons

- which stays in the nucleus?
- which exits the nucleus?

Back 51

- Introns

- Exonss

Front 52

Protein Synthesis

- INITIATION activated by what reaction?

Back 52

GTP hydrolysis

Front 53

Protein Synthesis

- tRNA ACTIVATION requires what energy molecule?

Back 53

ATP

Front 54

Protein Synthesis

- Translocation requires what energy molecule

Back 54

GTP

Front 55

Rb & p53

- are what kind of genes?

- proteins have what function on cell cycle?

Back 55

- Tumor suppressor genes

- inhibit G1 to S progression

Front 56

Secretory (exported) proteins are made where?

Back 56

RER

Front 57

Cytosolic & Organelle proteins are made where?

Back 57

Free ribosomes

Front 58

Give 2 examples of cells that are rich in RER

Back 58

- Goblet cells of small intestine
(mucus producing)

- Plasma cells
(antibody producing)

Front 59

Give 2 examples of cells that are rich in SER

Back 59

- Hepatocytes

- Adrenal cortex cells that produce steroid hormones

Front 60

Addition of what causes protein to be targeted to the Lysosome?

What organelle is responsible for this addition?

Back 60

- Mannose-6-Phosphate

- Golgi

Front 61

Vesicular Trafficking Proteins

- COP I direction
- COP II direction

Back 61

- Retrograde (Golgi --> ER)

- Anterograde (RER --> cis-Golgi)

Front 62

Vesicular Trafficking Proteins

- Clathrin direction

Back 62

trans-Golgi
--> Lysosome/PM
--> Endosomes

Front 63

Vesicular Trafficking Proteins

- which is responsible for receptor-mediated endocytosis?

Back 63

Clathrin

Front 64

I-cell Disease

- what type of storage disorder?
- etiology

Back 64

- Lysosomal storage disease

- failure to add Mannose-6-Phosphate to lysosome proteins

Front 65

I-cell Disease

- Symptoms?
- Lab results?

Back 65

- Course facial features
- Corneal clouding
- Joint restrictions

- High levels of Lysosomal Enzymes

Front 66

Microtubular Motor Proteins

- list the molecular motor proteins
- what directions are they responsible for?

Back 66

Dynein
- Retrograde to microtubule (+ to -)

Kinesin
- Anterograde to microtubule (- to +)

Front 67

Chediak-Higashi Syndrome

- etiology?
- etiology causes what functional problem?

Back 67

- microtubule polymerization defect

- decreased Phagocytosis

Front 68

Chediak-Higashi Syndrome

- symptoms?

Back 68

(RAP)
- Recurrent PYOGENIC infections
- Albinism (partial)
- Peripheral Neuropathy

Front 69

Chediak-Higashi Syndrome

- patients are susceptible to what type of recurrent infections?

Back 69

- PYOGENIC

Front 70

Kartegener's Syndrome

- etiology
- etiology causes what functional problem

Back 70

- Dynein arm defect

- immotile cilia

Front 71

Kartegener's Syndrome

- Signs/Symptoms
- associated with what condition?

Back 71

(RIB)
- Recurrent Sinusitis
- Infertility (both sexes)
- Bronchiectasis

- Situs invertus

Front 72

PLASMA MEMBRANE

- 2 major components

- what other components can be seen?

Back 72

- Cholesterol (~ 50%)
- Phospholipids (~50%)

- Glycolipids
- Proteins
- Sphingolipids

Front 73

PLASMA MEMBRANE

- increasing what will increase the PM melting temperature as well as decrease fluidity?

Back 73

- Cholesterol

- Long Chain SATURATED Fatty Acid

Front 74

IMMUNOHISTOCHEMICAL STAINS

- Vimentin stains what?

Back 74

- Connective tissue

Front 75

IMMUNOHISTOCHEMICAL STAINS

- Desmin stains what?

Back 75

- Muscle

Front 76

IMMUNOHISTOCHEMICAL STAINS

- Cytokeratin stains what?

Back 76

- Epithelial cells

Front 77

IMMUNOHISTOCHEMICAL STAINS

- GFAP stains what?

Back 77

- Neuroglia

Front 78

IMMUNOHISTOCHEMICAL STAINS

- Neurofilaments stain what?

Back 78

- Neurons

Front 79

SODIUM PUMP

- what is it?

Back 79

Na+ / K+ ATPase

Front 80

SODIUM PUMP

- for each ATP consumed what goes out and what goes in?

Back 80

3 Na+ out

2 K+ in

Front 81

SODIUM PUMP

- during each cycle, the sodium pump gets what?

Back 81

- phosphorylated

Front 82

Examples of Type I collagen x3

Back 82

- Bone
- Tendon
- Skin

Front 83

Examples of Type II collagen x2

Back 83

- Cartilage
- Blood

Front 84

Examples of Type III collagen x5

Back 84

- Reticulin
- Fetal tissue
- Blood vessels
- Uterus
- Granulation tissue

Front 85

Examples of Type IV collagen x1

Back 85

- Basement membrane
(basal lamina)

Front 86

List the steps of Collagen Synthesis INSIDE the Fibroblast.

Back 86

1.) Synthesis of Preprocollagen
2.) Hydroxylation of Proline & Lysine
3.) Glycosylation of Lysine
(forming Procollagen)

Front 87

List the steps of Collagen Synthesis OUTSIDE the Fibroblast.

Back 87

1.) Proteolytic cleavage of terminal regions (forming tropocollagen)

2.) Cross-linking (lysine-hydroxylysine) by lysyl-oxidase forming Collagen Fibrils

Front 88

COLLAGEN SYNTHESIS

- in the 1st step, translation of collagen alpha chains form what molecule?

- describe the molecule

Back 88

Preprocollagen

Gly-X-Y polypeptide
(where X & Y are proline, hydroxyproline, & lysine)

Front 89

COLLAGEN SYNTHESIS

- Vitamin C is required during what step?

Back 89

- Hydroxylation of Proline & Lysine

Front 90

COLLAGEN SYNTHESIS

- Glycosylation of lysine residues form what?

- Describe structure

Back 90

- Procollagen

- Triple helix of alpha chains

Front 91

COLLAGEN SYNTHESIS

- which collagen type is exocytosed from fibroblasts into the ECM

Back 91

- Procollagen

Front 92

COLLAGEN SYNTHESIS

- once exocytosed, proteolytic cleavage of procollagen's terminal region forms what insoluble product?

Back 92

- Tropocollagen

Front 93

COLLAGEN SYNTHESIS

- the final step of collagen synthesis
- enzyme involved
- forms what product?

Back 93

- Cross-linking

- Lysl-oxidase

- Collagen Fibrils

Front 94

COLLAGEN SYNTHESIS

- which step is inhibited with Scurvy?

Back 94

- Hydroxylation (of proline & lysine)

(requires vitamin C)

Front 95

COLLAGEN SYNTHESIS

- which step is inhibited with Osteogenesis Imperfecta?

- thus what product can not be formed?

Back 95

- Glycosylation (of lysine)

- Procollagen
(triple helix of 3 alpha chains)

Front 96

COLLAGEN SYNTHESIS

- which step is inhibited with Ehler-Danlos?

Back 96

- Peptic cleavage

Front 97

OSTEOGENESIS IMPERFECTA

- most fatal form involves what collagen type?
- inheritance pattern?

Back 97

- Collagen Type I

- AD

Front 98

OSTEOGENESIS IMPERFECTA

- if fata in utero or neonatal, then what type of collagen?

Back 98

- Collagen Type II

Front 99

Ehlers-Danlos Syndrome involves what collagen type?

Back 99

- Collagen Type III

Front 100

ALPORTS SYNDROME

- involves what collagen type?
- most fatal type is what inheritance patten?

Back 100

- Collagen Type IV

- X-linked Recessive

Front 101

ELASTIN

- what enzyme breaks it down?
- what inhibits the enzyme that breaks it down?

Back 101

- Elastase

- Alpha 1 Antitrypsin

Front 102

Marfan syndrome is caused by what defect?

Back 102

- defect in FIBRILLIN (type of elastin)

Front 103

Elastin is rich in what?

Back 103

- Proline
- Glycine

Front 104

What blotting procedure analyzes DNA?

Back 104

- Southern Blotting

Front 105

What blotting procedure analyzes RNA?

Back 105

- Northern Blotting

Front 106

What blotting procedure analyzes Protein?

Back 106

- Western Blotting

Front 107

ELISA analyzes what reactivity?

Back 107

Antigen-Antibody reactivity

Front 108

Microdeletions at molecular level are seen with what procedure?

How do these microdeletions manifest in the procedure?

Back 108

- FISH

- NO fluorescence (= deleted gene)

Front 109

KARYOTYPING

- analyzes what type of chromosomes?

Back 109

Metaphase chromosomes

Front 110

KARYOTYPING

- can test what tissues? x4

Back 110

- Blood
- Amniotic tissue
- Marrow
- Placenta

Front 111

cDNA

- lacks what?
- involved in what procedure?
- created how?

Back 111

- Introns

- Cloning

- mRNA transcript exposed to Reverse Transcriptase