First Aid Biochem/genetics Part Ii

Front 1

What are examples of permanent cells?

Back 1

Never leave G0; cardiac/skeletal muscle, RBCs, neurons

Front 2

Where does O and N linked glycosylation occur?

Back 2

N in the ER, O in the golgi

Front 3

What is the function of the RER?

Back 3

Production of secretory proteins and N-glycosylation (post translation modification).

Front 4

Name two cell types rich in RER.

Back 4

Plasma cells (antibiodies) and goblet cells (mucin)

Front 5

What is a Nissl body?

Back 5

RER in a neuron

Front 6

What is the function of free ribosomes?

Back 6

Creates cytosolic proteins

Front 7

What is the function of SER?

Back 7

Steroid synthesis and detoxification

Front 8

Name two cell types rich in SER.

Back 8

Adrenal cortex, hepatocytes

Front 9

Which COP protein is responsilbe for retrograde and anterograde vesicle transport?

Back 9

Retrograde = I, anterograde = II

Front 10

What is the function of the golgi apparatus?

Back 10

O-link glycsolyation on serine and theronine, mannose-6-phosphate addition to traffic to lysosomes

Front 11

What is the role of the clathrin coated vesicle?

Back 11

Transports vesicle from trans golgi to cell membrane / lysosome

Front 12

What is the role of the endosome?

Back 12

Sorting center for materials brought from outside the cell or from the golgi; sends back to the membrane or golgi for furhter use

Front 13

What is the role of the peroxisome?

Back 13

Alpha-oxidation of very long chain fatty acids and amino acid catabolism

Front 14

What is the role of the proteosome?

Back 14

Degrades ubiquitinated proteins

Front 15

Is tublin an ATPase or a GTPase?

Back 15

GTPase

Front 16

What composes microvilli, adherens junctions?

Back 16

Actin (and myosin)

Front 17

What composes cilia and flagella?

Back 17

Microtubules

Front 18

What is the intermediate filament for connective tissue? Muscle? Skin? Glial cells?

Back 18

Vimentin, desmin, cytokeratin, GFAP

Front 19

Does cholesterol increase or decrease fluidity of the plasma membrane?

Back 19

Decreases

Front 20

What is the most abundant protein in the body?

Back 20

Collagen

Front 21

Where is type I collagen found?

Back 21

Bone, skin, tendon, dentin, fascia, cornea, late wound repair

Front 22

Where is type II collagen found?

Back 22

Cartilage (including hyaline), viterous body, nucleus pulposus

Front 23

Where is type III collagen found?

Back 23

Skin, blood vessels, uterus, fetal tissue, granulation tissue

Front 24

Where is type IV colagen found?

Back 24

Basement membrane or basal lamina

Front 25

What vitamin is required for hydroxylation of collagen? In what organelle does it occur?

Back 25

Vitamin C; ER

Front 26

What is the typical collagen protein sequence?

Back 26

Gly-X-Y with X and Y usually being proline, hydroxyproline, and hydroxylysine

Front 27

What bond forms the collagen triple helix?

Back 27

Disulfide bonds and hydrogen bonds

Front 28

What steps of collagen synthesis happen inside the fibroblast? Outside?

Back 28

Inside the cell: synthesis of preprocollagen, hydroxylation and glycosylation, formation of procollagen triple helix; outside the cell: clevage of termianl procollagen to form insoluble tropocollagen, crosslinking to form fibrils

Front 29

What enzyme is responsible for cross linking of collagen in the ECF?

Back 29

Lysyl oxidase

Front 30

What enzyme is reponsible for preventing the degredation of elastin by elastase?

Back 30

Alpha-1 antitrypsin

Front 31

What is the purpose of PCR?

Back 31

Amplification of a desired dDNA fragment from a few copies to many

Front 32

How do you analyze PCR results?

Back 32

Gel electrophoresis

Front 33

What blot type is for DNA, RNA , protein, and DNA binding proteins?

Back 33

Southern, Northern, Western, Southwestern

Front 34

What HIV test is the screening test? The confirmatory test?

Back 34

ELISA is screening; Western is conformatory

Front 35

In a FISH probe, what does the absence of binding to a gene mean?

Back 35

Gene is absent (mutated)

Front 36

What is the purpose of siRNA?

Back 36

Small interfering RNA; promotes degredation of target mRNA

Front 37

What is a common example of codominance?

Back 37

ABO blod groups

Front 38

What is variable expression? What is a common example?

Back 38

Nature and severity of a phenotype varies from person to person; NF1

Front 39

What is incomplete penetrance?

Back 39

Not all individuals with a mutant genotype display the mutant phenotype

Front 40

What is pleiotropy? What is a common example?

Back 40

1 gene has > 1 effect on an individual's phenotype; ex. Marfan's syndrome

Front 41

What is imprinting?

Back 41

Differences in phenotype depend on whether mutation was of maternal or paternal origin

Front 42

What is anticipation?

Back 42

Severity of disease increases with successive generations

Front 43

What is loss of heterozygosity? What is a common example?

Back 43

If patient inherits mutation of tumor supressor gene, complementary gene must be deleted/mutated before cancer begins; Li-Fraumeni, retinoblastoma, BRCA breast/ovarian cancer, etc.

Front 44

What is a dominant negative mutation?

Back 44

The defective gene of the heterozygote prevents the proper expression of the normal gene's product

Front 45

What is linkage disequilibrium?

Back 45

Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance

Front 46

What is lyonization?

Back 46

Random X inactivation in females

Front 47

What is locus heterogenity? What is an example?

Back 47

Mutations at different loci and produce the same phenotype; Marfan's, MEN2B, and homocysti

Front 48

What is heteroplasmy?

Back 48

Presence of both normal and mutated mtDNA, resulting in variable expression of mitochondrial disease offspring of affected mother

Front 49

For an X-linked recessive disease, frequence of the disease in males and females is equal to what?

Back 49

Males = q, females = q^2

Front 50

What disease has a CGG, GAA, CAG, and CTG trinucleotide repeat?

Back 50

CGG: fragile X, GAA: Freidrich, CAG: huntington's, CTG: myotonic dystrophy