Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations.

@article{Cantor1987SandhoffDH,
  title={Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations.},
  author={Rita M. Cantor and Chitra Roy and Jae Sung Lim and Michael M. Kaback},
  journal={American journal of human genetics},
  year={1987},
  volume={41 1},
  pages={
          16-26
        }
}
Carrier frequencies for the allele(s) causing Sandhoff disease have been estimated for the U.S. Jewish and non-Jewish populations. The estimates have been made directly, with data from 22,043 Jewish and 32,342 non-Jewish individuals measured for total serum hexosaminidase activity and the heat-labile fraction. These values have been shown to identify potential carriers of the Sandhoff allele(s) with 95% sensitivity. Subsequent leukocyte assays of total hexosaminidase activity and the heat… CONTINUE READING
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