Autosomal diseases

Question 1

Abnormal neutrophil chemotaxis (decreased INF gamma production by Th1 cells)

Answer 1

Job syndrome

Question 2

Hyperimmunoglobulin E syndrome (hyper IgE)

Answer 2

Job

Question 3

Mutation in STAT3 gene

Answer 3

Job syndrome

Question 4

Coarse fancies, abscesses caused by staph aureus, primary teeth retained, IgE elefantes. Eczema, ulcers, pustules, scaling, blisters or rashes, scoliosis

Answer 4

Job syndrome

Question 5

Genetic predisposition for early development of cancer, mutation in p53 gene

Answer 5

Li fraumeni

Question 6

—- gene prevents damage by arresting mutant dna cells in G1/S phase of cel cycle until cell is repaired.

Answer 6

p53

Question 7

Molecule ——- targets p53 for degradation in Li fraumeni, this p53 degraded and tumor forms

Answer 7

Mdm2

Question 8

Inheritance of one allele of p53. Then one —- mutation of the second allele then rapid development f malignant tumor at age less than —-

Answer 8

Somatic, 45

Question 9

Family history of multiple types of cancers in poeple <45 years old

Answer 9

Li fraumeni

Question 10

Most common tumor of this disease are seen in breast, adrenal, Cortex, brain, blood (leukemias’

Answer 10

Li fraumeni

Question 11

Porphobilonogen deaminase def,

Answer 11

Acute intermittent porphyria

Question 12

As of acute intermittent porphyria

Answer 12

Severe abdominal pain, peripheral neuropathy (patchy), CNS signs (anxiety, hallucinations, agitation, delirium, pee abnormality (dysuria, retention, incontinence, darkening), no rash

Question 13

Acute porphyria intermittent

Answer 13

Uroporphyrinogen I synthase

Question 14

Porphyria cutánea tarda

Answer 14

Uroporphyrinogen III decarboxylase

Question 15

VHL gene mutation

Answer 15

Von hippel lindau

Question 16

VHL gene mutation disrupt the ——- —- complex

Answer 16

Ubiquitine ligase complex

Question 17

HIF -1 alpha is what? Related to what disease.

Answer 17

Hypoxia indicting factor alpha. Related to VHL disease.

Question 18

Effects of HIF-1 alpha

Answer 18

Induces PDFg, VEGF, EPO and TGF alpha . Which bring about more vessels, so more blood, so more oxygen to respond t hypoxia situations.

Question 19

When is HIF 1 alpha abnormally expressed in large amounts as though person we’re in hypoxia situation?

Answer 19

VHL

Question 20

Hemangioblastoma, Rena cell carcinoma, and pheochromocytoma

Answer 20

VHL

Question 21

vWF gene is in chromosome —-

Answer 21

Chromosome 12

Question 22

What is platelet adhesion? What does it INVOLVE (ingredients, if you will)?

Answer 22

Exposure of collagen, receptors of collagen bind to vWF, then vWF bind tosurfwce receptor on platelet called gp1b

Question 23

What are the ingredients of platelet aggregation?

Answer 23

Platelet changes conformation and expresses on its surface: ADP and TXA2.
Then receptor gp2b3a is expressed and binds fibrinogen, which binds another platelet’s gp2b3a.

Question 24

What drug prevents adhesion of platelets

Answer 24

Clopidogrel

Question 25

What drugs prevent platelet aggregation?

Answer 25

Abciximab, agrostat

Question 26

Early clotting is done by —— or white clots

Answer 26

Platelet clots

Question 27

Late clotting is done by red or —- clots

Answer 27

Fibrin clots

Question 28

``` Types of vWF: Type 1, what happens with vWF? Type 2a? Type 2b Type 3? ```

Answer 28

Type 1- quantitative, very little vWF (most cases) Type 2a— quantity is normal but quality no, the ones that are present cannot function well Type 2b - the ones present function too well, they hyper bind to collagen so they get out of circulation, so very little available vWF and little platelets Type 3 - complete absence of vWf