The effects of inbreeding on DNA profile frequency estimates using PCR-based loci

  • Bruce Budowle
Part of the Contemporary Issues in Genetics and Evolution book series (CIGE, volume 4)


Estimates of inbreeding were determined using Wright’s FsT for loci used for PCR-based forensic analyses. The populations analyzed were African Americans, Caucasians, Hispanics, and Orientals. In most cases the Fst values at each locus were less than 0.01. The Fst values over all loci for African Americans, Caucasians, and Orientals ranged from 0.0015 to 0.0048. No substantial differences were observed for DNA profile frequency estimates when calculated under the assumption of independence or with the incorporation of Fst.

Key words

African American Caucasian Oriental Hispanic inbreeding population substructure PCR Hardy-Weinberg Expectations DNA profile 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 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. Forensic Science International 64: 125–140.PubMedCrossRefGoogle Scholar
  2. Brookfield, J., 1992. The effect of population subdivision on estimates of the likelihood ratio in criminal cases using single-locus DNA probes. Heredity 69: 97–100.PubMedCrossRefGoogle Scholar
  3. Budowle, B. and J. Stafford, 1991. Response to ‘population genetic problems in the forensic use of DNA profiles’ by R.C. Lewontin submitted in the case of United States versus Yee. Crime Laboratory Digest 18: 109–112.Google Scholar
  4. Budowle, B., A.M. Giusti, J.S. Waye, F.S. Baechtel, R.M. Fourney, D.E. Adams, L.A. Presley, H.A. Deadman and K.L. Monson, 1991. Fixed bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci for use in forensic comparisons. Amer. J. Hum. Genet, 48: 841–855.Google Scholar
  5. Budowle, B., K.L. Monson, A.M. Giusti and B. Brown, 1994a. The assessment of frequency estimates of Hoe llI-generated VNTR profiles in various reference databases. J. Forens. Sei. 39: 319352.Google Scholar
  6. Budowle, B., K.L. Monson, A.M. Giusti and B. Brown, 1994b. Evaluation of Hinf I-generated VNTR profile frequencies determined using various ethnic databases. J. Forons. Sci. 39: 94–112.Google Scholar
  7. Budowle, B., J.A. Lindsey, J.A. DeCou, B.W. Koons, A.M. Giusti and C.T. Comey, 1994e. Validation and population studies of the loci LDLR, GYPA, HBGG, D7S8, and Gc (PM loci), and HLA-DQa using a multiplex amplification and typing procedure. J. Forens. Sci. (in press).Google Scholar
  8. Budowle, B., K.L. Monson and A.M. Giusti, 1994. A reassessment of frequency estimates of Pvu II-generated VNTR profiles in a Finnish, and Italian, and a general United States Caucasian database: No evidence for ethnic subgroups affecting forensic estimates. Amer. J. Hum. Genet. 55: 533–539.Google Scholar
  9. Chakraborty, R. and L. Jin, 1992. Heterozygote deficiency, population structure and their implications in DNA fingerprinting. Human Genetics 88: 267–272.PubMedCrossRefGoogle Scholar
  10. Chakraborty, R. and K.K. Kidd, 1991. The utility of DNA typing in forensic work. Science 254: 1735–1739.PubMedCrossRefGoogle Scholar
  11. Crow, J.F., 1993. Population genetics as it relates to human iden tification. In: The Fourth International Symposium on Human Identification, Promega Corporation, Madison, WI (in press).Google Scholar
  12. Devlin, B. and N. Risch, 1992a. A note on Hardy-Weinberg equilibrium of VNTR data using the FBI’s fixed bin method. Amer. J. Hum. Genet. 51: 549–553.Google Scholar
  13. Devlin, B. and N. Risch, 1992b. Ethnic differentiation at VNTR loci, with special reference to forensic applications. Amer. J. Hum. Genet. 51: 534–548.Google Scholar
  14. Devlin, B., N. Risch and K. Roeder, 1993. Statistical evaluation of DNA fingerprinting: a critique of the NBC’s report. Science 259: 748–750.PubMedCrossRefGoogle Scholar
  15. Devlin, B., N. Risch and K. Roeder, 1994. Comments on the statistical aspects of the NBC’s report on DNA typing. J. Forens. Sci. 39: 28–40.Google Scholar
  16. Gyllensten, U.B. and H.A. Erlich, 1988. Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the ILLA-DQ alpha locus. Proc. Natl. Acad. Sci. USA 85: 7652–7656.Google Scholar
  17. Hartl, D.L. and R.C. Lewontin, 1993. Response to Devlin et al. Science 260: 473–474.PubMedCrossRefGoogle Scholar
  18. Hochmeister, M.N., B. Budowle, U.V. Borer and R. Dimhofer, 1994. Swiss population data on the loci HLA-DQa, LDLR, GYPA, HBGG, D7S8, Gc and D1S80. Forens. Sci. Int. 67: 175–184.Google Scholar
  19. Horn, G.T., B. Richards, J.J. Merrill and K.W. Klinger, 1990. Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus. Clin. Chem. 36: 1614–1619.Google Scholar
  20. Huang, N.E. and B. Budowle, 1994. Chinese population data on the PCR-based loci HLA-DQa, LDLR, GYPA, HBGG, D7S8, and Ge. Human Heredity (in press).Google Scholar
  21. Lander, E.S., 1989. Population genetic considerations in the forensic use of DNA typing, pp. 143–156 in Banbury Report 32: DNA Technology and Forensic Science. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, N.Y.Google Scholar
  22. Lewontin, R.C. and D.L. Hartl, 1991. Population genetics in forensic DNA typing. Science 254: 1745–1750.PubMedCrossRefGoogle Scholar
  23. Li, C.C. and A. Chakravarti, 1994. DNA profile similarity in a subdivided population. Human Heredity 44: 100–109Google Scholar
  24. Morton, N.E., 1992. Genetic structure of forensic populations. Proc. Natl. Acad. Sci. USA 89: 2556–2560.Google Scholar
  25. Morton, N.E., A. Collins and t. Balazs, 1993. Kinship bioassay on hypervariable loci in Blacks and Caucasians. Proc. Natl. Acad. Sci. USA 90: 1892–1896.Google Scholar
  26. Nei, M., 1973. Analysis of gene diversity in subdivided populations. Proc. Natl. Acad. Sci. USA 70: 3321–3323.Google Scholar
  27. Nei, M., 1977. F-statistics and analysis of gene diversity in subdivided populations. Ann. Hum. Genet. 41: 225–233.Google Scholar
  28. Nichols, R.A. and D.J. Balding, 1991. Effects of population substructure on DNA fingerprint analysis in forensic science. Heredity 66: 297–302.PubMedCrossRefGoogle Scholar
  29. Perkin Elmer: AmpliType PM PCR Amplification and Typing Kit Manual, Part No. N808–0057, 1994, pp 3.Google Scholar
  30. Siebert, P.M. and M. Fukuda, 1987. Molecular cloning of human glycophorin B cDNA: nucleotide sequence and genomic relationship to glycophorin A. Proc. Natl. Acad. Sci. USA 84: 6735–6739.Google Scholar
  31. Slightom, J.L., A.E. Blechl and O. Smithies, 1980. Human fetal Gryand Ary-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell 21: 627–638.PubMedCrossRefGoogle Scholar
  32. Weir, B.S. and C.C. Cockerham, 1984. Estimating F-statistics for the analysis of population structure. Evolution 38: 1358–1370.CrossRefGoogle Scholar
  33. Weir, B.S., 1990, In Genetic Data Analysis, SinauerAssociates, Inc., Sunderland, Massachusetts, pp. 145–162.Google Scholar
  34. Weir, B.S., 1992. Independence of VNTR alleles defined as fixed bins. Genetics 130: 873–887.PubMedGoogle Scholar
  35. Weir, B.S. and W.G. Hill, 1993. Population genetics of DNA profiles. J. Forens. Sci. Soc. 33: 218–225.Google Scholar
  36. Weir, B.S., 1994. The effects of inbreeding on forensic calculations. Ann. Rev. Genet. 28: 597–621Google Scholar
  37. Wright, S., 1922. Coefficients of inbreeding and relationship. Amer. Nat 56: 330–338.Google Scholar
  38. Wright, S., 1965. The interpretation of population strucuture by F-statistics with special regard to systems of mating. Evolution 19: 395–420.CrossRefGoogle Scholar
  39. Yamamoto, T., C.G. Davis, M.S. Brown, W.J. Schneider, M.J. Casey, J.L. Goldstein and D.W. Russell, 1984. The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 39: 27–38.Google Scholar
  40. Yang, F, J.L. Brune, S.L. Naylor, R.L. Apples and K.H. Naberhaus, 1985. Human group-specific component (Ge) is a member of the albumin family. Proc. Natl. Acad. Sci. USA 82: 7994–7998.Google Scholar

Copyright information

© Springer Science+Business Media Dordrecht 1995

Authors and Affiliations

  • Bruce Budowle
    • 1
  1. 1.Forensic Science Research and Training CenterFBI AcademyQuanticoUSA

Personalised recommendations