HETEROZYGOTE SCREENING IN TAY-SACHS DISEASE (TSD): A DUALITY CONTROL STUDY

Heterozygote Screening in Tay-sachs Disease

In 1887, Bernard Sachs reported on the clinical features diagnostic signs and symptoms and pathology of a patient with a condition that would someday bear his name(l). It was several decades later before it was discovered that these patients suffered from a recessive genetic trait resulting in the accumulation of a specific ganglioside, GM2, due to the deficiency of the lysosomal enzyme hexosam...

Kinetic determination of hexosaminidases for Tay-Sachs heterozygote screening.

We describe a method for continuous kinetic measurement of hexosaminidase activity, and have applied it to detection of heterozygotes for Tay-Sachs gene. In contrast to existing single-point methods, a ph of 4.5, which is optimal for hexosaminidase activity on the substrate (4-methylumbelliferyl-N-acetyl-beta-d-glucosaminide) is maintained while the increase in fluorescence produced by 4-methyl...

Screening for Tay-sachs Disease

Carrier screening programs have historically been focused within a particular group---e.g., Tay-Sachs among Ashkenazic Jews and sickle cell anemia among African Americans. With cystic fibrosis (CF), the potential target population is larger and less defined, which may introduce both technical and organizational complexity not present in past carrier screening. This appendix describes past carri...

Tay-Sachs disease: a centenary.

Tay-Sachs Disease

In 1881 British ophthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system [4] as manifested in the child?s physical and mental retardation [5]. This cherry-red spot is a characteristic that would eventually come to be associated with...