Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): allele frequency data for three population groups

Mol Cell Probes. 1994 Apr;8(2):149-54. doi: 10.1006/mcpr.1994.1020.

Abstract

The fifth intron of the human antithrombin gene (AT3) of chromosome 1q23 contains a highly polymorphic short tandem repeat based on the trinucleotide repeat [ATT]. Alleles range in size from [ATT]5 to [ATT]18, and can be typed using the polymerase chain reaction. Here we report allele frequency population data for Caucasians, Blacks and Southeast Asians. Statistical analyses demonstrate consistency with Hardy-Weinberg equilibrium for all three databases, and that the allele frequencies of all three population groups are significantly different from each other. This locus reveals 76% to 87% heterozygosity and therefore may be useful for forensic identity testing and paternity determination.

Publication types

  • Comparative Study

MeSH terms

  • Alleles*
  • Antithrombin III / analysis
  • Antithrombin III / genetics*
  • Asian People / genetics*
  • Base Sequence
  • Black People / genetics*
  • DNA / analysis
  • DNA / genetics
  • Gene Frequency
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Nucleotides / analysis*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Repetitive Sequences, Nucleic Acid
  • White People / genetics*

Substances

  • Nucleotides
  • Antithrombin III
  • DNA