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Title: A note on Hardy-Weinberg equilibrium of VNTR data by using the Federal Bureau of Investigation's fixed-bin method

Journal Article · · American Journal of Human Genetics; (United States)
OSTI ID:5017653
;  [1]
  1. Yale Univ., New Haven, CT (United States)

To fully utilize the information of VNTR data for forensic inference, the probability of observing the matching suspect and evidentiary profile in a reference population is estimated, usually by assuming independence of alleles within and between loci. This assumption has been challenged on the basis of the observation that there is frequently an excess of single-band phenotypes (SBP) in forensic data bases, which could indicate lack of independence. Nevertheless, another explanation is that the excess SBP are artifacts of laboratory methods. In this report the authors examine the excess of SBP for three VNTR loci studied by the FBI (D17S79 and D2S44, for blacks, and D14S13, for Caucasians). The FBI claims that the excess is due to the effect of null alleles; the null alleles are suspected to be small to be detected. The authors estimate the frequency of null alleles for two loci (D17S79 and D14A13) by comparing, for these loci, the data from the FBI data base and the data from the Lifecodes data base. These comparisons yield information on small fragments because Lifecodes uses the restriction enzyme PstI, which yields larger fragments than does HaeIII, which the FBI uses. For D17S19 in blacks, the authors estimate a null allele frequency of 4.4%, and, for D14S13 in Caucasians, they estimate a frequency of 3.0%. The null-allele frequency for D2S44 in blacks is derived similarly, again being based on analysis of DNA cut with HaeIII and PstI; the estimate of the null-allele frequency for this locus is 1.5%. Using these null-allele frequency estimates and a goodness-of-fit test, the authors show that there is no evidence for deviations from Hardy-Weinberg expectations of genotype probabilities at these loci. 20 refs., 1 fig.

OSTI ID:
5017653
Journal Information:
American Journal of Human Genetics; (United States), Vol. 51:3; ISSN 0002-9297
Country of Publication:
United States
Language:
English

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