What is the mutated allele that causes huntington's disease?

Answer 1

Autosomal and dominant. It's a defective gene on chromosome 4. :D Hope this helps!

Answer 2

The cause of huntington disease is a trinucleotide (CAG) expansion in the HD gene. The protein affected (gain of function, turns toxic) is called huntingtin. Huntington disease is autosomally dominant and has full penetrance if the repeat is greater than 38 in size.

Answer 3

Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain.

The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 40 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with more than 40 repeats almost always develop the disorder.

An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.

Answer 4

a dominent and autosomal allele Hope this helps

Answer 5

Autosomal and dominant. It's a defective gene on chromosome 4. :D Hope this helps!