Autosomal Dominant

Autosomal dominant is a pattern of inheritance in which an individual only needs to inherit a single copy of a mutated gene from one parent in order to inherit a specific trait or disease.

Characteristics of Autosomal Dominant Inheritance

Autosomal dominant inheritance is characterized by the following features:

• Gene Location: The mutated gene responsible for the trait or disease is located on an autosome, which is any chromosome that is not a sex chromosome (X or Y).
• Dominant Trait: The presence of the mutated gene on one allele is sufficient to express the trait or disease, overriding the normal, non-mutated allele.
• 50% Chance of Inheritance: Each child of an affected individual has a 50% chance of inheriting the mutated gene and displaying the trait or disease.
• Vertical Transmission: Affected individuals are often seen in successive generations of a family, as the trait or disease is passed down from one generation to the next.
• Equally Affects Both Genders: Autosomal dominant traits or diseases are not limited to a specific gender; they have an equal chance of occurring in males and females.

Examples of Autosomal Dominant Disorders

Some well-known examples of autosomal dominant disorders include:

• Huntington’s Disease: A neurodegenerative disorder characterized by involuntary movements, cognitive decline, and emotional disturbances.
• Marfan Syndrome: A connective tissue disorder that affects various systems of the body, causing long limbs, heart abnormalities, and other physical features.
• Polycystic Kidney Disease: A condition causing the growth of numerous cysts in the kidneys, which can lead to kidney failure.
• Neurofibromatosis Type 1: A disorder characterized by the growth of multiple tumors on nerves throughout the body, causing a range of symptoms and complications.