autosomal dominant

Introduction

A mode of inheritance from autosomes in which inheritance of a single allele for the trait is sufficient for phenotypic manifestation of the trait.

The classic example is brown eyes.

Of interest, is the types of mutations that manifest as disease that is inherited in an autosomal dominant pattern.

These include:

• gain of function mutations (overactivity of an enzyme)
• autosomal dominant with incomplete penetrance
  • some individuals do not develop disease
    • BRCA1 gene
• autosomal dominant with variable expressivity
  • range of signs & symptoms in different people with the same genetic condition

More general terms

• mode of inheritance