GM2-gangliosidosis (Sandhoff and Tay Sachs disease
): Diagnosis and neuroimaging findings (an Iranian pediatric case series).
There has been so much intermarriage among different racial and ethnic groups, and assimilation of different populations, that it has become increasingly difficult to discern a single ethnicity for individuals to determine who is "high risk." An increasing number of people report mixed ancestry, and many patients often prefer not to categorize themselves by race or ethnicity number of carriers of a mutation for Tay Sachs disease
do not report Ashkenazi Jewish ancestry Similarly, the ethnic lines that have traditionally defined risk for cystic fibrosis have changed, and more widespread carrier screening has been increasingly encouraged over the past decade.
Few would argue against screening embryos for major genetic disorders like Tay Sachs disease
. But accepting the logic of eugenics in one context opens the door for justifying more controversial practices: could parents begin to screen embryos for cosmetic traits like eye color?
Population-based carrier screening (PBCS) for genetic diseases began in the United States with a pilot program for Hexoseaminidase A (HexA) deficiency, also known as Tay Sachs disease (TSD) in Ashkenazi Jewish (AJ) populations in Baltimore, MD, and Washington, DC, in 1970.
Tay Sachs disease is only found in the Ashkanazi Jewish population.
The enzyme assay for Tay Sachs disease is performed heated and unheated because
Which samples are the least reliable for Tay Sachs disease?
A pseudodeficiency of the enzyme causing Tay Sachs disease is due to the following mutation (polymorphism):
When comparing the sensitivity and specificity of enzyme assays and DNA testing for Tay Sachs disease
For example, two of the more prevalent lysosomal-storage disorders -- Gaucher's disease and Tay Sachs disease
-- strike one in 600 and one in 3,000 Ashkenazi Jews, respectively, according to figures compiled by geneticist Victor McKusick at the Johns Hopkins University School of Medicine in Baltimore.