Population genetics of short tandem repeat (STR) loci
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To investigate the population genetics of short tandem repeat (STR) polymorphisms in human populations, we have studied the allele frequency distributions of four STR loci (HUMTH01, HUMVWA31, HUMF13A1 and HUMFES) in 16 different population surveys which can be categorised within three broadly defined ethnic groups: Caucasian, Asian (Indian subcontinent), and African (Afro-Caribbean and US black). We have observed that allele frequency distributions of populations within ethnic groups are similar; consequently, genetic distances are an order of magnitude lower than between ethnic groups. Inbreeding coefficients (F-statistics) and calculations of the number of mean heterozygous loci per individual, along with estimates of variance, did not suggest that the populations were substructured. This included a study of an immigrant Asian population known to comprise at least three different sub-groups. Finally, an indication of the discriminating power is given by calculation of likelihood ratios (LR) of each individual tested across all four loci. Approximately 70% of Caucasians give an LR of greater than 10,000; the test is even more discriminating in Afro-Caribbeans — approximately 90% of tests are greater than 10,000.
Key wordsF-statistics genetic distance populations short tandem repeat (STR)
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- Cavalli-Sforza, L.L. and A. Piazza, 1993. Human Genomic Diversity in Europe: A summary of recent research and prospects for the future: Eur. J. Hum. Gen. 1: 3–18.Google Scholar
- DNA recommendations. 1992 report concernng recommendations of the DNA Commission of the International Society for Forensic Haemogenetics relating to the use of PCR based polymorphisms. Int. J. Leg. Med. 105: 63–64.Google Scholar
- Haskey, J., 1991. The ethnic minority populations resident in private households–estimates by county and metropolitan district of England and Wales. Population Trends 63, HMSO: 22–35.Google Scholar
- Kimpton, C.P., D. Fisher, S. Watson, M. Adams, A. Urquhart, J.E. Lygo and P. Gill, 1994. Evaluation of an automated DNA profiling system employing multiplex amplification of four tetrameric STR loci. Int. J. Leg. Med. (in press).Google Scholar
- Lygo, J.E., P.E. Johnson, D.J. Holdaway, S. Woodroffe, J.P. Whitaker, T.M. Clayton, C.P. Kimpton and P. Gill, 1994. The validation of short tandem repeat (STR) loci for the use in forensic casework. Int. J. Leg. Med. (in press).Google Scholar
- Polymeropoulos, M.H., D.S. Rath, H. Xiao and C.R. Merril, 1991a. Tetranucleotide repeat polymorphism at the human tyrosine hydrolase gene (TH). Nucleic Acids Res. 19: 37–53.Google Scholar
- Polymeropoulos, M.H., D.S. Rath, H. Xiao and C.R. Merril, 1991b. Tetranucleotide repeat polymorphism at the human c-fes/fps proto-oncogene (FES). Nucleic Acids Res. 19: 4018.Google Scholar
- Polymeropoulos, M.H., D.S. Rath, H. Xiao and C.R. Merril, 1991c. Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1). Nucleic Acids Res. 19: 4036.Google Scholar
- Weir, B.S., 1990. Intraspecific variation, pp. 373–410 Molecular Systematics and Evolution, published by Sinauer Associates, Inc, Sunderland, Massachusetts, USA.Google Scholar