Genetics: Single Gene Disorders Flashcards Preview

Year 3: CSP & PH > Genetics: Single Gene Disorders > Flashcards

Flashcards in Genetics: Single Gene Disorders Deck (4)
1

Name 3 X-linked recessive disorders

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

2

Name 3 X-linked dominant disorders

• Retinitis pigmentosa
• Chondrodysplasia punctate
• Hypophosphataemic rickets

3

Name 4 autosomal recessive disorders

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

4

Name 3 autosomal dominant disorders

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