Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis

@article{Frisch2003OriginAS,
  title={Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis},
  author={Amos Frisch and Roberto Colombo and Elena Michaelovsky and Mazal Karpati and B. J. Kremen Goldman and Leah Peleg},
  journal={Human Genetics},
  year={2003},
  volume={114},
  pages={366-376}
}
The 1278insTATC is the most prevalent β-hexosaminidase A (HEXA) gene mutation causing Tay-Sachs disease (TSD), one of the four lysosomal storage diseases (LSDs) occurring at elevated frequencies among Ashkenazi Jews (AJs). To investigate the genetic history of this mutation in the AJ population, a conserved haplotype (D15S981:175–D15S131:240–D15S1050:284–D15S197:144–D15S188:418) was identified in 1278insTATC chromosomes from 55 unrelated AJ individuals (15 homozygotes and 40 heterozygotes for… CONTINUE READING
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