In human DNA diagnostics, accuracy is paramount. As in any assay, the use of positive controls is vital in determining assay performance. DNA typing controls are typically either synthetic DNA, PCR products, bacterial plasmid clones of PCR products, genomic DNA isolated directly from patient material, or genomic DNA derived from cell lines. All have advantages and disadvantages. NIBSC have devised a novel form of genetic reference material which avoids the need to derive material directly from patients and results in the cloning of a controlled number of allele copies into a non- human cell line. The host cell line has a genome size similar to human, yet is evolutionarily distant. This allows the production of stable genomic DNA, accurately mimicking human samples, but not allowing the cross-reactivity of primers with other alleles or genes. By controlling the copy number of the inserted DNA fragment(s), the resulting genomic DNA will cluster together with human samples in 2- colour fluorescence-based genotyping methods. Alleles can exist in the hemizygous, heterozygous or homozygous state. Technology may also be used to produce DNA controls for viruses, in which the viral genomic DNA is itself pathogenic.

GB patent application GB2408980 "Genetic reference standard". International Patent Application: PCT/GB2004/005033 "Genetic reference materials"

Available for either exclusive or non-exclusive licensing. The institute also seeks partners interested in the production of DNA reference materials on a contract basis.