Single gene disorders
|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.
Conceptually, 2 different areas in this chapter.
- Understanding the mechanisms of inheritance
- Awareness of the genetic and clinical features of common syndromes.
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
- Different inheritance patterns
- Mucopolysaccharidoses – Overview
- von Gierke disease
- Tay–Sachs disease – overview
- Gaucher’s disease
- Glycogen storage diseases
- Types of Genetic disorders
- Lysosomal storage disorders
- Niemann–Pick disease