Quality assurance samples submitted from the NCSBI as part of a contract with TBTG to outsource DNA Database samples showed unexpected discrepancies for the locus D16S539 when all other loci yielded identical results. Discrepancies observed included allele drop out and an imbalance in sister alleles with samples returned from TBTG. This led to a comprehensive review of the technical procedures used between the two laboratories to determine the cause of the discrepancies noted for the locus D16S539, since both laboratories were using the PowerPlex® 1.1 typing kit from the Promega Corporation. The NCSBI and the TBTG utilize different extraction methods (organic extraction vs. FTA) and amplification conditions (AmpliTaq® vs AmpliTaq Gold®), respectively, so the exact cause of discrepancy observed was not immediately apparent. Experiments at the NCSBI associated the observed allele drop out and the imbalance of the sister alleles with the use of AmpliTaq Gold® and a hot start procedure. Sequencing data revealed that a point mutation resides on the D16S539 primer-binding site that reaches polymorphic levels in African-American populations. This led to the development of a degenerate primer by the Promega Corporation to detect “missing” alleles when AmpliTaq Gold® is used. The degenerate primer was then thoroughly tested to show its efficacy in detecting the “true” D16S539 profile when used.

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Three new phenotypes of human erythrocyte acid phosphatase (ACP1) have been detected and found to be unique by direct comparison with previously identified ACP1 variants. One of these new electrophoretic variants, labeled as ACP1FA, has been detected in the Hispanic population of California. The electrophoretic variants identified as ACP1GA and ACP1GB have been detected in a black family in North Carolina. A family study has shown that ACP1G is transmitted as an allele of ACP1.