Genetics: Single Gene Disorders

Question 1

Name 3 X-linked recessive disorders

Answer 1

• Duchenne muscular dystrophy
• Haemophilia A
• X-linked severe combined immune disorder (SCID)

Question 2

Name 3 X-linked dominant disorders

Answer 2

• Retinitis pigmentosa
• Chondrodysplasia punctate
• Hypophosphataemic rickets

Question 3

Name 4 autosomal recessive disorders

Answer 3

• Cystic fibrosis
• Tay-Sachs
• Haemochromatosis
• Phenylketonuria (PKU)

Question 4

Name 3 autosomal dominant disorders

Answer 4

• Huntington’s disease
• Achondroplasia (short-limbed dwarfism)
• Polycystic kidney disease