title: Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): allele frequency data for three population groups.
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.
authors.affiliation: Department of Pathology, McMaster University, Hamilton, Ontario, Canada.
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: H Y
authors.initials: HY
authors.lastname: Ni
authors.forename: M A
authors.initials: MA
authors.lastname: Blajchman
authors.forename: G
authors.initials: G
authors.lastname: Carmody
mesh_terms: D000483:Alleles; D000990:Antithrombin III / Q000032:analysis / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D044383:Black People / Q000235:genetics*; D004247:DNA / Q000032:analysis / Q000235:genetics; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009711:Nucleotides / Q000032:analysis*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D044465:White People / Q000235:genetics*
chemical_list: D009711:Nucleotides; D000990:Antithrombin III; D004247:DNA