Autosomal Dominant

In autosomal dominant inheritance it is sufficient for a disease of the mutation carrier that there is only one mutated copy on an autosome. In patients with this type of disease, one parent was usually the sole carrier of the mutation (Figure). Autosomal dominant diseases usually occur in affected families in every generation, because the disease is passed on by the affected persons (= mutation carriers).

Examples of autosomal dominant diseases are ADPKD and Huntington's disease.

The figure ' shows the inheritance in a family in which the father is the mutation carrier of an autosomal dominant disease. In this example, the disease is transmitted to two of the four children to illustrate that the probability of transmission is 50%.