Abstract
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.
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References
Balding, D.J. and R.A. Nichols, 1994. DNA profile match probability calculation: how to allow for population stratification, relatedness, database selection and single bands. Forens. Sci. Int. 64: 124–140.
Brookfield, J., 1991. The effect of population subdivision on estimates of the likelihood ratio in criminal cases using single-locus DNA probes. Heredity 69: 97–100.
Brown, A.H.D., M.W. Feldman and E. Nevo, 1980. Multilocus structure of natural populations of Hordeum sponataneum. Genetics 96: 523–536.
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.
Chakraborty, R., 1981. The distribution of the number of heterozygous loci in an individual in natural populations. Genetics 98: 461–466.
Chakraborty, R., 1984. Detection of nonrandom association of alleles from the distribution of the number of heterozygous loci in a sample. Genetics 108: 719–731.
Chakraborty, R., R. Deka, L. Jin and R.E. Ferrell, 1992. Allele sharing at six VNTR loci and Genetic Distances among three ethnically defined human populations. Am. J. of Hum. Biology 4: 387–397.
Deka, R., R. Chakraborty and R.E. Pencil, 1991. A population genetic study of six VNTR loci in three ethnically defined populations. Genomics 11: 83–92.
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.
Edwards, A., A. Civitello, H.A. Hammond and C.T. Caskey, 1991. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am. J. Hum. Genet. 49: 746–756.
Edwards, A., H.A. Hammond, L. Jin, C.T. Caskey and R. Chakraborty, 1992. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12: 627–631.
Evett, LW., J. Scranage and R. Pinchin, 1993. An illustration of the advantages of efficient statistical methods for RFLP analysis in forensic science. Am. J. Hum. Genet. 52: 498–505.
Fregeau, C.J. and R,M. Fourney, 1993. DNA typing with fluorescently tagged short tandem repeats: a sensitive and accurate approach to human identification. Biotechniques 15: 100–119.
Gill, P., P.L. Ivanov, C. Kimpton, R. Piercy, N. Benson, G. Tully, I Evett, E. Hagelberg and K. Sullivan, 1994. Identification of the remains of the Romanov family by DNA analysis. Nature Genetics 6: 130–135.
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.
Jones, D.A., 1972. Blood samples: Probability of discrimination. J. Forens. Sci. Soc. 12: 355–359.
Jeffreys, A.J., N.J. Rouyle, V. Wilson and Z. Wong, 1988. Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA. Nature 332: 278–281.
Kimpton, C,P., A. Walton and P. Gill, 1992. A further tetranucleotide repeat polymorphism in the vWF gene. Hum. Mol. Genet. 1: 287.
Kimpton, C.P., P. Gill, A. Walton, A. Urquhart, E.S. Millican and M. Adams, 1993. Automated DNA profiling employing `multiplex’ amplification of short tandem repeat loci. PCR Methods and Applications 3: 13–22.
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).
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).
Morton, M.E., 1992. Genetic structure of forensic populations. Proc. Natl. Acad. Sci. USA 89: 2556–2560.
Morton, N.E., A. Collins and I. Balazs, 1993. Kinship bioassay on hypervariable loci in Blacks and Caucasians. Proc. Natl. Acad. Sci. USA 90: 1892–1899.
Nichols, R.A. and D.J. Balding, 1991. Effects of population structure on DNA fingerprint analysis in forensic science. Heredity 66: 297–302.
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.
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.
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.
Reynolds, J., B.S. Weir and C.C. Cockerham, 1983. Estimation of the coancestry coefficient: Basis for a short term genetic distance. Genetics 105: 767–779.
Urquhart, A. and P. Gill, 1993. Tandem-repeat internal mapping (TRIM) of the Involucrin Gene: repeat number and repeat-pattern polymorphism within a coding region in human populations. Am. J. Hum. Genet. 53: 279–286.
Wall, W.J., R. Williamson, M. Petrou, D. Papaioannou and B.H. Parkin, 1993. Variation of short tandem repeats within and between populations. Hum. Mol. Genet. 2: 1023–1029.
Weber, J.L. and P.E. May, 1989. Abundant class of human DNA polymorphism which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44: 388–396.
Weber, J.I. and C. Wong, 1993. Mutation of human short tandem repeats. Hum. Mol. Genetics 2: 1123–1128.
Weir, B.S., 1990. Intraspecific variation, pp. 373–410 Molecular Systematics and Evolution, published by Sinauer Associates, Inc, Sunderland, Massachusetts, USA.
Weir, B.S., 1994. The effects of inbreeding on forensic calculations. Annual Review of Genetics 28: 597–621.
Ziegle, J.S., Y. Su, P. Kevin, L.N. Corcoran, P.E. Mayrand, L.B. Hoff, L.J. McBride, M.N. Kronick and S.R. Diehl, 1992. Application of automated DNA sizing technology for genotyping microsatellite loci. Genomics 14: 1026–1031.
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Gill, P., Evett, I. (1995). Population genetics of short tandem repeat (STR) loci. In: Weir, B.S. (eds) Human Identification: The Use of DNA Markers. Contemporary Issues in Genetics and Evolution, vol 4. Springer, Dordrecht. https://doi.org/10.1007/978-0-306-46851-3_9
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DOI: https://doi.org/10.1007/978-0-306-46851-3_9
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