Bruce Budowle PhD¹, Linda B. Jankowski MS², Harry W. Corey BS², Nancy T. Swec BS², Sharon
Freck-Tootell BS², Joseph Pino BS², Robyn Schwartz BS², Carol A. Kelley BS² and Margaret Tarver JD
MS^2
1 Forensic Science Research and Training Center, FBI Academy, Quantico, VA
² South Regional Laboratory, New Jersey State Police, Hammonton, NJ

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The objective of this paper was to determine whether six PCR-based and three commonly used protein-based genetic markers demonstrate gametic phase equilibrium.

When DNA profiles from a known source and an evidentiary sample cannot be excluded as potentially originating from the same source, an estimate (or estimates) of the rarity of the evidentiary profile is provided. In addition to typing the evidence for DNA markers, at times protein-bases genetic markers have been analyzed. In our opinion, the most meaningful estimate of the rarity of the combined DNA and protein profiles would be derived by assuming independence and multiplying the individual locus frequencies together. However, one could argue that independence has not been demonstrated formally. To date, there are no published data determining whether or not the loci in the PolyMarker system (HLA DQA1, LDLR, GYPA, HBGG, D7S8 and Gc) and three common protein-based markers (PGM₁, EAP and EsD) demonstrate gametic phase equilibrium (or linkage equilibrium) expectations.

This paper presents allele frequency data and a statistical analysis for these nine loci in a Caucasian population sample from New Jersey. All loci meet Hardy-Weinberg expectations. In addition, there is little evidence for association of alleles among the nine loci. The allelic frequency data tend to be similar to other Caucasian population data. Thus, the allele frequencies for the loci can be useful for providing estimates of the frequency of a multiple locus profile.