A human mitochondrial DNA standard reference material for quality control in forensic identification, medical diagnosis, and mutation detection

A human mitochondrial DNA (mtDNA) standard reference material (SRM 2392) wi ll provide quality control when mtDNA is sequenced for forensic identificat ions, medical diagnosis, or mutation detection. SRM 2392 includes DNA from two lymphoblast cell cultures (CHR and 9947A) and cloned DNA from the CHR H V1 region, which contains a C stretch and is difficult to sequence. The mtD NA sequence (but not the DNA) of a third human template GM03798 is provided for comparison. Fifty-eight unique primer sets allow any area or the entir e mtDNA (16,569 bp) to be amplified and sequenced. While none of the differ ences in these three templates correspond to published mutations associated with specific diseases, some of these differences did result in animo acid changes compared with that published by S. Anderson et al. (1981, Nature 2 90: 457-465). An interlaboratory evaluation of the amplification, sequencin g, and data analysis of the CHR template was conducted by four laboratories . Corroboration of the SRM results will provide quality assurance that any unknown mtDNA is also being amplified and sequenced correctly. (C) 1999 Aca demic Press.