Tay Sachs disease is caused by the homozygous recessive gene on chromosome 15 that codes for the lack of production of hexosaminidase-A (Hex-A) [1]. Since there is no HexA, a fatty substance is allowed build up abnormally in nerve cells, which damages the cells and the brain [1]. Males and females are equally likely to carry this recessive gene but the heterozygous gene carriers are not affected, because they still have the dominant gene [2]. If both parents have the heterozygous gene, then the child suffers a twenty five percent chance of getting the homozygous recessive gene, which causes Tay Sachs [2]. The chances of contracting the disease can be known through using Punnet’s square [1,2]. Children with Tay Sachs …show more content…
It is caused by the presence of the homozygous recessive gene on chromosome 15 that codes for the production of hexosaminidase-A (Hex-A). Since the body has no HexA, a fatty substance is allowed build up abnormally in nerve cells, which eventually damages the cells and the brain. When a child is two years old, they will suffer seizures and degrading mental function. Their mental abilities continue to worsen to a point of paralyses and blindness, and death comes around age five.
2. NTSAD - Causes. (2015, March 13). Retrieved February 18, 2016, from https://www.ntsad.org/index.php/tay-sachs/causes
Tay Sachs is only contracted through gene inheritance from parents. Males and females are equally likely to carry the recessive gene. People who have the heterozygous gene are not affected, but they may be at risk of passing on the recessive portion to their children. If both parents have the heterozygous gene, then the child suffers a twenty five percent chance of contracting Tay Sachs disease, if they have the homozygous recessive gene.
3. Tay Sachs Disease - NORD (National Organization for Rare Disorders). (n.d.). Retrieved February 18, 2016, from