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Science 21 September 1990:
Vol. 249. no. 4975, pp. 1416 - 1420
DOI: 10.1126/science.2205919
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Articles

Science, Vol 249, Issue 4975, 1416-1420
Copyright © 1990 by American Association for the Advancement of Science

articles

No excess of homozygosity at loci used for DNA fingerprinting

B Devlin, N Risch, and K Roeder

Department of Epidemiology and Public Health, Yale University, New Haven, CT 06510.

Variable number of tandem repeat (VNTR) loci are extremely valuable for the forensic technique known as DNA fingerprinting because of their hypervariability. Nevertheless, the use of these loci in forensics has been controversial. One criticism of DNA fingerprinting is that the VNTR loci used for the "fingerprints" violate the assumption of Hardy-Weinberg equilibrium (H-W), making it difficult to calculate the probability of observing a genotype in the population. If one can assume H-W, the probability of observing the pair of alleles constituting an individual's genotype can be calculated by taking the product of the alleles' frequencies in the population and multiplying by two if the alleles are different. The evidence cited against assuming H-W is homozygote excess, which is presumed to be caused by an undetected mixture of two or more populations with limited interpopulational mating and distinct allele frequencies. For most VNTR loci, measurement error makes it impossible to test these claims by standard methods. The Lifecodes database of three VNTR loci used for forensics was used to show that the claimed excess of homozygotes is not necessarily real because many heterozygotes with similar allele sizes are misclassified as homozygotes. A simple test of H-W that takes such misclassifications into account was developed to test for an overall excess or dearth of heterozygotes in the sample (the complement of homozygote dearth or excess). The application of this test to the Lifecodes database revealed that there was no consistent evidence of violation of H-W for the Caucasian, black, or Hispanic populations.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Determination of twin zygosity using a commercially available STR analysis of 15 unlinked loci and the gender-determining marker amelogenin - a preliminary report.
M.-J. Yang, C.-H. Tzeng, J.-Y. Tseng, and C.-Y. Huang (2006)
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Response to the Letter "Gametic and Zygotic Associations" by Rong-Cai Yang.
C. Sabatti and N. Risch (2003)
Genetics 165, 451-452
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Forensic inference from genetic markers.
B. Devlin (1993)
Statistical Methods in Medical Research 2, 241-262
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Statistical evaluation of DNA fingerprinting: a critique of the NRC's report.
B Devlin, N Risch, and K Roeder (1993)
Science 259, 748-749
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On the probability of matching DNA fingerprints.
N. Risch and B Devlin (1992)
Science 255, 717-720
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The utility of DNA typing in forensic work.
R Chakraborty and K. Kidd (1991)
Science 254, 1735-1739
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Forensic DNA tests and Hardy-Weinberg equilibrium.
(1991)
Science 253, 1037-1038
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Forensic DNA Tests and Hardy-Weinberg Equilibrium.
P. GREEN and E. S. LANDER (1991)
Science 253, 1038-1039
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Response.
B. DEVLIN, N. RISCH, and K. ROEDER (1991)
Science 253, 1039-1041
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