Single gene disorders


Single gene disorders

Exam Yield

Probability of getting 1 Question from this chapter 73%
Ease of Revision 6.5 / 10

Many conditions to read, but only a few things to remember in each topic.

If you can make a table, should be easy.

Question Pattern

Conceptually, 2 different areas in this chapter.

  • Understanding the mechanisms of inheritance
  • Awareness of the genetic and clinical features of common syndromes.

Recent Questions

Questions on this chapter from recent NEET and AIIMS examinations have been about
  • Mode of inheritance in G6PD deficiency
  • Classic EDS involves collagen type
  • Marfan’s syndrome – Clincal Features
  • Ehler–Danlos Syndrome
  • Inheritance pattern of common disorders
  • Non-sense mutation is seen in
  • Example for codominant inheritance

Suggested Revision

  • Different inheritance patterns
  • Sphingolipidoses
  • Mucopolysaccharidoses – Overview
  • von Gierke disease
  • Tay–Sachs disease – overview
  • Gaucher’s disease
  • Glycogen storage diseases
  • Types of Genetic disorders
  • Lysosomal storage disorders
  • Pleiotropism
  • Niemann–Pick disease

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