Single Gene Disorders

When a certain gene causes disease due to mutation it is known as Single gene disorder. As a consequence, the genes which code for protein is either altered or missing.

  • A defective gene from one or in some cases both parents is carried from parent to child.
  • Child at birth is born with a disorder
  • Most genetic disorders are asymptomatic at birth
  • The disease condition progresses as the child ages
  • High morbidity has been observed especially in Single gene disorders
Most common diseases associated with Single gene disorder

Cystic fibrosis, Sickle cell disease, Fragile X syndrome, Muscular Dystrophy & Huntington Disease.

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