"Cryptic" dinucleotide polymorphism in the 3' region of the factor IX gene shows substantial variation among different populations

Hum Genet. 1994 Mar;93(3):357-8. doi: 10.1007/BF00212042.


Long tandem dinucleotide repeats composed of alternating purines and pyrimidines [RY(i)] are abundant and highly polymorphic. "Simple" RY(i) are predominantly 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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Base Sequence
  • Chromosome Mapping
  • DNA
  • Factor IX / genetics*
  • Gene Frequency
  • Genetic Variation*
  • Humans
  • Molecular Sequence Data
  • Polymorphism, Genetic*
  • Racial Groups / genetics*
  • Repetitive Sequences, Nucleic Acid*
  • X Chromosome


  • Factor IX
  • DNA