Barbara C. Levin, L A. Tully, Diane K. Hancock, Frederick P. Schwarz, M S. Lee
Every human cell has from a few dozen to several thousand mitochondria each of which contain mitochondrial DNA (mtDNA). The sequence of the entire human mtDNA (16,569 base pairs) was determined and published by Anderson et al. in 1981. A mtDNA standard reference material (SRM 2392) is now available from the National Institute of Standards and Technology to provide quality control when sequencing mtDNA for forensic identifications, medical diagnosis or mutation detection (Levin et al., 1999). We are currently in the process of adding DNA from the cell culture HL-60 to SRM 2392 and hope to have the new enhanced SRM by December 2002. A number of human diseases are known to be associated with specific mutations and deletions of mtDNA.
heteroplasmy, human, mitoanalyzer, mitochondria DNA, standard reference material, web site