Proteins

Question 0

Senile plaques
Neurofibrillary bundles
Protein b- amyloids

Answer 0

Alzheimers disease

Question 1

neurodegenerative disease characterized by spongiform changes, astrocytic gliomas and neuronal loss

Answer 1

Prion disease

Question 2

Apolipoprotein in alzheimers

Answer 2

E

Question 3

Erythrocytes: spheroidal, less deformable, vulnerable to splenic sequestration

Answer 3

Hereditary spherocytosis

Question 4

Diagnostic test for Hereditary spherocytosis

Answer 4

Osmotic fragility test

Question 5

Homozygous recessive disorder

Point mutaion for b-chain, Glutamate ➡️ valine

Answer 5

Sickle cell disease

Question 6

Single amino acid substitution in 6th position of b-globin chain
Glutamate ➡️ lysine

Answer 6

Hemoglobin C disease

Question 7

Anemia
Tissue Anoxia
Painful crises
Protective against Malaria

Answer 7

Sickle cell disease

Question 8

Jaundice
Anemia
Splenomegaly

Answer 8

Hereditary spherocytosis

Question 9

Fibrillar collagen defect

Answer 9

Ehlers danlos

Question 10

Collagen type 1 def

Answer 10

Osteogenesis imperfecta

Question 11

Type 4 collagen deficiency

Answer 11

Alports syndrome

Question 12

Dietary deficiency of copper

Answer 12

Menkes syndrome

Question 13

Type 7 collagen deficiency

Answer 13

Epidermolysis Bullosa

Question 14

Sensorineural hearing loss
Hematuria
End stage renal disease

Answer 14

Alports

Question 15

Conductive hearing loss
Blue sclerae
Multiple fractures
Dental imperfection

Answer 15

Osteogenesis imperfecta

Question 16

Kinky hair with growth retardation

Answer 16

Menkes

Question 17

Skin breaks and blisters due to minor trauma

Answer 17

Epidermolysis bullosa

Question 18

Fibrillin gene mutation

Answer 18

Marfans syndrome

Question 19

Hyperextensible skin
Tendency to bleed
Hupermobile joints
⬆️ risk for berry aneurysm

Answer 19

Ehelers