Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.
作者： E E Grebner , J Tomczak
DOI:
关键词: Genetics 、 Ashkenazi jews 、 Heterozygote advantage 、 Insertion 、 Allele frequency 、 Alpha chain 、 Mutation (genetic algorithm) 、 Gene 、 Tay-Sachs disease 、 Biology
摘要: DNA from 176 carriers of the Tay-Sachs gene was tested for presence three mutations most commonly found among Ashkenazi Jews: so-called insertion, splice junction, and adult mutations. Among 148 Jews tested, 108 had insertion mutation, 26 junction five nine none three. 28 non-Jewish whom were obligate carriers, four one remaining 23
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