ID #:
Tay Sach’s
Description
Tay Sach’s is a progressive genetic disorder that affects the nervous system. The mutation occurs on the HEXA gene which is located on the “Q” arm of chromosome 15 between the 23rd and 24th positions. Since Tay Sach’s is a recessive disorder, it requires two recessive traits, or alleles, in order for it to appear in an individual. Individuals who inherit this disorder are lacking a protein called hexosaminidase A. This protein’s function is to dispose of the fat that builds up called GM2 Ganglioside. This fat makes up cell membranes and, when too much accumulates, will eventually destroy the cell. The destruction of these cells result in symptoms that prohibit the infected persons from learning and retaining the information required to perform certain tasks.
Epidemiology …show more content…
The reason for this is, since it deteriorates brain function, it kills people who have this disorder within the first few years of life. However, there are also, like with everything, exceptions. In this case those exceptions would be Juvenile and Late-Onset Tay Sach’s which begin to affect adults around the age of 30 and children within the age range of 2-5. As for the ethnic impact, Tay Sach’s is most common within the Jewish community, more specifically, with the Ashkenazi Jewish people. Approximately 1 in every 3,600 people in the Ashkenazi Jewish population have the disease and 1 in every 25 to 30 people are carriers, compared to a 1 in 250 people as carriers in the non-Jewish population. There are also a few more populations that Tay Sach’s occurs more often. For example, in the Irish American community about 1 in every 50 people are carriers of this disorder. However, in the general population of America, the chances of inheriting this disorder are very slim. According to…. Only a mere 1 in 320,000 newborns are infected and 1 in 300 are carriers. (in text
Tay Sach’s
Description
Tay Sach’s is a progressive genetic disorder that affects the nervous system. The mutation occurs on the HEXA gene which is located on the “Q” arm of chromosome 15 between the 23rd and 24th positions. Since Tay Sach’s is a recessive disorder, it requires two recessive traits, or alleles, in order for it to appear in an individual. Individuals who inherit this disorder are lacking a protein called hexosaminidase A. This protein’s function is to dispose of the fat that builds up called GM2 Ganglioside. This fat makes up cell membranes and, when too much accumulates, will eventually destroy the cell. The destruction of these cells result in symptoms that prohibit the infected persons from learning and retaining the information required to perform certain tasks.
Epidemiology …show more content…
The reason for this is, since it deteriorates brain function, it kills people who have this disorder within the first few years of life. However, there are also, like with everything, exceptions. In this case those exceptions would be Juvenile and Late-Onset Tay Sach’s which begin to affect adults around the age of 30 and children within the age range of 2-5. As for the ethnic impact, Tay Sach’s is most common within the Jewish community, more specifically, with the Ashkenazi Jewish people. Approximately 1 in every 3,600 people in the Ashkenazi Jewish population have the disease and 1 in every 25 to 30 people are carriers, compared to a 1 in 250 people as carriers in the non-Jewish population. There are also a few more populations that Tay Sach’s occurs more often. For example, in the Irish American community about 1 in every 50 people are carriers of this disorder. However, in the general population of America, the chances of inheriting this disorder are very slim. According to…. Only a mere 1 in 320,000 newborns are infected and 1 in 300 are carriers. (in text