autosomal dominant genetic disorder mastering biology
Examples of Autosomal Dominant Disorder. Huntington's disease (HD). 1  Autosomal Dominant disorder which affects the central Nervous System (CNS). 2  Patients with HD suffer involuntary movements such as twitching of the limbs and face and have slurred speech. The defective gene responsible for HD is called Huntingtin and is located on the short (p) arm of chromosome 4 (4p). 2  The gene contains a repeated CAG sequence near the 5âend. 3  The mechanism that causes neuronal cell death in Huntington's disease may involve a hyperactive N-methyl-d-aspartate (NMDA) receptor.