What is genotype Tay Sachs disease?

Genotype Tay Sachs disease refers to the specific genetic makeup of an individual with Tay Sachs disease, a genetic disorder that leads to the accumulation of a fatty substance called GM2 ganglioside in the brain. It is caused by mutations in the HEXA gene, which provides instructions for making an enzyme called beta-hexosaminidase A. This enzyme is responsible for breaking down GM2 ganglioside.

In Tay Sachs disease, mutations in the HEXA gene prevent the production of beta-hexosaminidase A, leading to the accumulation of GM2 ganglioside in the brain and progressive damage to nerve cells. Individuals with Tay Sachs disease typically have two copies of the mutated HEXA gene, one inherited from each parent. This is known as an autosomal recessive inheritance pattern.

For an individual to have Tay Sachs disease, they must inherit two mutated HEXA genes, one from each parent. Carriers of Tay Sachs disease have only one mutated HEXA gene and one normal gene. Carriers do not have Tay Sachs disease themselves, but they can pass on the mutated gene to their children.

The genotype of Tay Sachs disease can be determined through genetic testing. This testing can help individuals and families understand their risk of having or passing on the disorder and make informed decisions about family planning and medical care.