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Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): allele frequency data for three
Molecular and Cellular Probes
|April 1, 1994
Summary
Genetic analysis of the human antithrombin gene (AT3) reveals a highly polymorphic short tandem repeat. Allele frequencies differ significantly across Caucasian, Black, and Southeast Asian populations, suggesting utility in forensic and paternity testing.
Area of Science:
- Genetics
- Forensic Science
- Population Genetics
Background:
- The human antithrombin gene (AT3) on chromosome 1q23 contains a polymorphic short tandem repeat (STR) in its fifth intron.
- This STR is based on a trinucleotide repeat ([ATT]) with alleles ranging from [ATT]5 to [ATT]18.
Purpose of the Study:
- To determine the allele frequency distribution of the AT3 STR locus in Caucasian, Black, and Southeast Asian populations.
- To assess the potential utility of this locus for forensic identity testing and paternity determination.
Main Methods:
- Typing of AT3 alleles using the polymerase chain reaction (PCR).
- Statistical analysis of allele frequency data, including Hardy-Weinberg equilibrium testing.
Main Results:
- Significant differences in allele frequencies were observed among the three population groups.
- The AT3 locus demonstrated high heterozygosity rates, ranging from 76% to 87% across populations.
- Data were consistent with Hardy-Weinberg equilibrium within each population database.
Conclusions:
- The AT3 STR locus is highly polymorphic and exhibits distinct allele frequency profiles across major ethnic groups.
- The high heterozygosity and population-specific frequencies make the AT3 locus a valuable tool for forensic identity testing and paternity investigations.