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“Cryptic” dinucleotide polymorphism in the 3′ region of the factor IX gene shows substantial variation among different populations

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Abstract

Long tandem dinucleotide repeats composed of alternating purines and pyrimidines [RY(i)] are abundant and highly polymorphic. “Simple” RY(i) are predominately composed of one tandem repeat of a dinucleotide sequence. In contrast, “cryptic” RY(i [cRY(i)] are composed of multiple short dinucleotide repeats. Herein, we describe the racial distribution of alleles for a polymorphic cRY(i) in the factor IX gene. Allele I is absent in Asians, whereas allele III is rare or absent in Caucasians or blacks. A polymorphic cRY(i) analyzed previously shows even more dramatic variation among racial groups, hinting that a battery of cRY(i) might have utility in assessing the racial origin of a DNA sample.

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Sommer, S.S., Tillotson, V.L., Vielhaber, E.L. et al. “Cryptic” dinucleotide polymorphism in the 3′ region of the factor IX gene shows substantial variation among different populations. Hum Genet 93, 357–358 (1994). https://doi.org/10.1007/BF00212042

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  • DOI: https://doi.org/10.1007/BF00212042

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