Question

Write a brief note on Monogenic disorders.

Answer 1

These disorders are the result of a single defective gene on the autosomes. They are inherited according to Mendel's Laws (Mendelian disorders). The mutation can be spontaneous and where there is no previous family history. Inheritance patterns can be autosomal dominant, autosomal recessive or X-linked recessive. For many conditions there may even be different mutations in the gene which can cause disease, for example, in cystic fibrosis there are over 200 possible mutations in the gene but they mostly produce the same disease pattern.

Answer 2

Dear Student,

◆ Monogenic disorders -

• Chromosomal disorders which are caused due to modification in single gene are called monogenic disorders.
• Only one gene is defective on the autosomes.
• They are also called mendelian traits.

# Examples of monogenic disorders -

• Sickle cell anemia (recessive)
• Cystic fibrosis (recessive)
• Tay sachs disease (recessive)
• Myotonic dystrophy (dominant)
• Marfan syndrome (dominant)

Thanks dear. Hope this helps you...