Proteins

Question 1

Congenital ciliary dyskinesia

Answer 1

Autosomal recessive
Abnormal cilia function - secretion accumulation
“Kartageners syndrome” - bronchiectasis, sinusitis, sinus invertus

Question 2

Two haemoglobinopathies

Answer 2

1. Sickle cell anaemia

2. B-thalassemia - reduced or absent synthesis of beta chains of haemoglobin

Question 3

Dupuytren’s contracture

Answer 3

(when collagen synthesis or structure is abnormal)
Caused by excess collagen production affecting the connective tissue of the hand
Fingers are permanently bent

Question 4

Osteogenesis imperfecta (brittle bones)

Answer 4

Caused by mutation in type I collagen chains

Suspicion of child abuse may result from multiple fractures

Question 5

Ehlers-Danlos syndrome

Answer 5

Lysyl oxidase deficiency
Results from poorly formed/weak collagen in connective tissue
Causes fatigue, hyper mobility, stretchy skin