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Am J Hum Genet. 1991 Mar;48(3):604-7.

Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.

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  • 1Division of Medical Genetics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107.


DNA from 176 carriers of the Tay-Sachs gene was tested for the presence of the three mutations most commonly found among Ashkenazi Jews: the so-called insertion, splice junction, and adult mutations. Among 148 Ashkenazi Jews tested, 108 had the insertion mutation, 26 had the splice junction mutation, five had the adult mutation, and nine had none of the three. Among 28 non-Jewish carriers tested, most of whom were obligate carriers, four had the insertion mutation, one had the adult mutation, and the remaining 23 had none of the three.

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