Test 21- BC

Question 1

alpha galactosidase A def

Answer 1

Fabry disease that leads to the accumulation of ceramide trihexoside

Question 2

Skin lesions on lower abdomen (angiokeratomas) and fibroblasts that fail to metabolize ceramide trihexosidase.

Answer 2

Fabry disease

Question 3

without enzyme replacement what can happen to pt’s w/ Fabry’s disease?

Answer 3

renal failure

CV failure

Question 4

result of mutation in leptin gene/receptor

Answer 4

hyperphagia and profound obesity

Question 5

HbF

Answer 5

dominates in newborns

2alpha, 2 gamma

Question 6

Has a high affinity for O2, produced in final 7 mos of gestation

Answer 6

HbF

synthesis begins in liver, continues in spleen, then moves to bone marrow

Question 7

When do infant switch from HbF to HbA?

Answer 7

during first 6 mos

2 alpha
2 beta

Question 8

2 alpha

2 delta Hb

Answer 8

Hb A2

Normal variant of human Hb

Question 9

2 zeta

2 epsilon

Answer 9

Hb Gower

earlierst Hb found in fetus, synthesized in yolk sac and replaced by Hb Portland, before Hb F begins at 10-12 weeks

Question 10

four gamma

Answer 10

HbBart (4 allele deletion)

Question 11

homozygous alpha thalassemia

Answer 11

HbBart–has high affinity for O2 and doesn’t release it to tissue> hypoxia>
HYDROPS FETALIS

Question 12

Plan an important role in mRNA translation regulation and mRNA degradation in the cytoplasm.

Answer 12

Cytoplasmic P bodies

Question 13

Stop codons

Answer 13

UGA
UAA
UAG

Question 14

Right shift

Answer 14

ACE BATs (right) handed

Acid
CO2 (increase)
Exercise (increases lactic acid)
2,3- BPG (increase)
Altitude (easier release of O2)
Temperature (heat)

**increase in all factors

Question 15

Left shift O2-Hb dissociation curve

Answer 15

Decreased H (increased pH)
Deceased Co2
Decreased 2,3- BPG
Decreased temp

LUNG left

**decrease in all factors

Question 16

Anemia affect on pH

Answer 16

severe anemia>
lactic acidosis>
lower blood pH> shifts curve right

Question 17

Hypoventilation affect on O2-Hb curve

Answer 17

increased CO2>
increased H>
shifts curve right

Question 18

Def of galactose 1-phosphate uridyl transferase

Answer 18

Classic galactosemia (imapired galactose 1-P metabolism)

MC cause of galactosemia

Question 19

Vomiting, lethargy and FTT after breastfeeding is begin

Answer 19

Classic galactosemia

restrict lactose

Question 20

Galactose in blood and urine and infantile cataracts

Answer 20

Galactokinase Def

converts Galactose to Galactose 1-P

Question 21

Affect of radiation exposure on DNA

Answer 21

DNA ds fractures and formation of free radicals

Question 22

DNA cross linking

Answer 22

alkylating agents used to tx cancer

Question 23

pyrimidine pyrimidine (thymine dimers)

Answer 23

UV radiation

Question 24

Defect in fructokinase leading to benign disorder

Answer 24

Essential fructosuria

Question 25

Alpha acid glucociadase def

Answer 25

causes glycogen storage disease II (Pompe) Hepatomegaly, cardiomegaly, increased risk of cirrhosis

Question 26

What drives the release of H and Co2 from Hb?

Answer 26

Binding of O2 to Hb in the LUNGS (haldane effect)

Question 27

What facilitates unloading of Hb in the tissues?

Answer 27

High concentrations of CO2 and H (Borh effect)

Question 28

How do H irons affect Hb?

Answer 28

H ions buffer histidine residues on Hb> help stabilize deoxygenate form of Hb and DECREASE its affinity for O2

Question 29

Bleeding gums | Eccymoses nad petechiae and impaired wound healing

Answer 29

Lack of vit C impairs collagen hydroyxylation

Question 30

What pop is vit C def most commonly seen in?

Answer 30

alcoholics poor elderly

Question 31

Perifollicular hemorrheas and coiled (corkscrew) hairs are commonly seen with...

Answer 31

vit C def

Question 32

Where does translation of collagen alpha chains occur?

Answer 32

RER

Question 33

Where does hydroxylation of proline and lysine residues making up the alpha chains of collagen occur?

Answer 33

RER

Question 34

Hydroxylation of proline and lysine residues in collagen helps it to maintain its maximum strength and requires what cofactor

Answer 34

Vit C

Question 35

What cofactors are necessary for the converstion of homocysteine to methionine?

Answer 35

Methylcobalamin | methyl THF

Question 36

Why is folate metabolism impaired w/ vit B12 def?

Answer 36

THF4 can't be regenerated

Question 37

Two mechanisms that regulate the lac operon:

Answer 37

1. Negative= binding of repressor protein to operator locus | 2. postiive- cAMP-CAP binding upstream from promoter region

Question 38

Low glucose

Answer 38

increases AC> increases CAMP>actiates CAP> binds CAP site and activates promoter> increased trxn

Question 39

High lactose

Answer 39

Unbinds repressor from OPERATOR site> | increased trxn