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

摘要: A human mitochondrial DNA (mtDNA) standard reference material (SRM 2392) will provide quality control when mtDNA is sequenced for forensic identifications, medical diagnosis, or mutation detection. SRM 2392 includes from two lymphoblast cell cultures (CHR and 9947A) cloned the CHR HV1 region, which contains a C stretch difficult to sequence. The sequence (but not DNA) of third template GM03798 provided comparison. Fifty-eight unique primer sets allow any area entire (16,569 bp) be amplified sequenced. While none differences in these three templates correspond published mutations associated with specific diseases, some did result animo acid changes compared that by S. Anderson et al. (1981, Nature 290: 457-465). An interlaboratory evaluation amplification, sequencing, data analysis was conducted four laboratories. Corroboration results assurance unknown also being correctly.