Answer to Question #115999 in Genetics for MAKHUOGA ALFRED FRIDAY

Question

Identify the different types of chromosomal abnormalities that can lead to disease (e.g. insertions) and in a sentence or two, describe a disorder associated with one of these aberrations.

Answer 1

Tay–Sachs disease is caused by a genetic mutation in the hexosaminidase gene on chromosome 15 - thymidine insertion at position 3 of intron 4. The mutation disrupts the activity of the enzyme, which results in the buildup of the molecule GM2 ganglioside within cells, leading to toxicity, eventually the disorder leads to the destruction of nerve cells in the brain and spinal cord.