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

Abstract

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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The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. [J Biol Chem. 1988]
The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.
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Cited by 10 PubMed Central articles

Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage. [J Community Genet. 2011]
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Lew R, Burnett L, Proos A. J Community Genet. 2011 Dec; 2(4):201-9. Epub 2011 Jul 15.
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Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.
Risch N, Tang H, Katzenstein H, Ekstein J. Am J Hum Genet. 2003 Apr; 72(4):812-22. Epub 2003 Feb 24.
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Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
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