Genetic Inheritance
- Inheritance? Autosomal Recessive (An inheritance pattern in which both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition; the parents are known as "carriers")
- Chromosome Number? 15, in the long arm (q) at position 23
- Name of the gene? HEXA (hexosaminidase subunit alpha)
- Mutations? Tay-Sachs is caused by mutations in the HEXA gene, which leads to the lack of an enzyme called beta-hexosaminidase A, causing neurodegeneration due to the accumulation of a lipid (GM2 ganglioside) in the brain and spinal cord.
Resource: https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease