The “Founder Effect” can be used to describe the presence of an allele that has a frequency which is unusually high and in an isolated population. This description can be used if all the copies of the allele are identical and selectively neutral and the original copy was carried by an initiator or is as a result of mutation. The high frequency of alleles may cause four different disorders that involve lysosomal storage. These disorders include the Tay Sachs disease and Gauncher disease (Slatkin, 2004).
The Tay Sachs disease is an inherited disorder that involves the central nervous system which is caused by a gene that is abnormal. This disease is as a result of a deficiency of hexosaminidase A enzyme, which is also known as HEXA. This enzyme facilitates the breakdown of ganglioside GM2 which is a fatty material. As a result, the material builds up in the brain and harms the nerve cell which in turn leads to neurological problems (Harvard Health Publishing, 2013). The Tay Sachs disease is commonly found in the Ashkenazi Jews, who are the communities found in the Northern and Central Europe.
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The Tay Sachs disease is a recessive and autosomal disease that is caused by mutations in the alleles of the genes of HEXA that is located on chromosome 15. This gene codes for the anzyme β-hexosaminidase A which is an alpha subunit that is found in organelles, lysosomes and are in in charge of break down and recycling of large molecules in the cell. In individuals that suffer from the Tay Sachs, the enzyme is either absent or present in limited amounts. The carriers to pass on the genes to their children. In addition, if the defective HEXA gene is passed to the child from both parents, the child will then have Tay Sachs disorder. Therefore, if both parents are carriers, then the child has a possibility of becoming either a carrier of the defective gene or having the Tay Sachs disease.
References
Harvard Health Publishing. (2013). Tay-Sachs Disease - Harvard Health. Retrieved from https://www.health.harvard.edu/mind-and-mood/tay-sachs-disease-
Slatkin, M. (2004). A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases. The American Journal of Human Genetics , 75 (2), 282-293. doi:10.1086/423146
