Problems in FBI mtDNA Database

In his Editorial “Forensic science: oxymoron? ” (5 Dec. 2003, p. 1625), D. Kennedy wonders why the U.S. National Institute of Justice has regularly resisted comprehensive evaluations of the science underlying forensic techniques. A possible answer can be found in the poor quality of the forensic human mitochondrial DNA (mtDNA) database used by the Federal Bureau of Investigation (FBI), which is included in the Scientific Working Group on DNA Analysis Methods (SWGDAM) database ([1][1]). A thorough inspection of the original “African-American” database, which has been contributed by the FBI laboratory, reveals a number of major deficiencies. Among 1148 entries, each comprising two separately sequenced segments from the mtDNA control region, we detected as many as five artificial combinations of totally unrelated mtDNA segments stemming from different samples, which suggest fatal sample mix-up in the lab or during data transcription ([2][2]). The most striking hybrid (USA.AFR.000942) we found combined segment I from an African haplogroup (referred to as L1b) ([3][3]) with segment II from a Native American haplogroup (called C1) ([4][4]). Recently, the FBI attempted to correct this database by searching for clerical errors: only nine were spotted ([1][1]), three of which (in the “Hispanic” database) we actually communicated to Bruce Budowle (FBI laboratory) by way of example. Since only three of six clear recombinants ([2][2]) have been discovered by the FBI, one cannot exclude the possibility of mixups during sample-handling in the remaining instances, which could only be corrected through thorough resequencing of the original samples. Several obvious clerical errors still remain in the revised database, such as the 100 base-pair shift that hit position 16126 in USA.CAU. 000272. Moreover, biochemical problems are manifest, for example, in the “Greek Caucasian” series, where a large amount of undetermined nucleotides are recorded—up to six in one sequence (GRC.CAU.000056). These findings suggest that several parts of the SWGDAM database have not been subjected to the necessary scrutiny. Since as early as 2001, the field of forensics has known ([5][5]–[7][6]) that many published mtDNA databases are of poor quality, obviously affected by contamination or sample mix-up, sequencing artifacts due to biochemical problems (yielding sporadic phantom mutations), misreading of automated sequencer outputs, and inadvertent documentation in print or in silico ([6][7]). These adverse effects could be directly observed in the most recent ring tests among European forensic laboratories ([8][8]). A recent European initiative (European DNA Profiling Group, EDNAP) has fully addressed the notorious problems in forensic mtDNA analysis ([8][8]) by promoting the EDNAP mtDNA population database (EMPOP) project. EMPOP, currently based on cooperation between 33 forensic DNA laboratories worldwide, features fully automated error-free transcription processes and other technical improvements. Moreover, the DNA samples will be permanently linked to the corresponding raw data and database entries, so that present data are open to critical reexamination and future refinement. In resisting comprehensive evaluations, the U.S. National Institute of Justice has certainly backed up the FBI in their advertising of the forensic utility of the SWGDAM database and thus inhibited the generation of a new reliable mtDNA database in the United States. 1. 1. [↵][9]See . 2. 2. [↵][10]1. H. -J. Bandelt, 2. A. Salas, 3. S. Lutz-Bonengel , Int. J. Legal Med. in press. 3. 3. [↵][11]1. A. Salas 2. et al. , Am. J. Hum. Genet. 71, 1082 (2002). 4. 4. [↵][12]1. H. -J. Bandelt 2. et al. , Ann. Hum. Genet. 67, 512 (2003). 5. 5. [↵][13]1. H. -J. Bandelt, 2. P. Lahermo, 3. M. Richards, 4. V. Macaulay , Int. J. Legal Med. 115, 64 (2001). 6. 6. [↵][14]1. A. Rohl, 2. B. Brinkmann, 3. L. Forster, 4. P. Forster , Int. J. Legal Med. 115, 29 (2001). 7. 7. [↵][15]1. C. Dennis , Nature 421, 773 (2003). 8. 8. [↵][16]1. W. Parson 2. et al. , Forensic Sci. Int. 139, 215 (2004). [1]: #ref-1 [2]: #ref-2 [3]: #ref-3 [4]: #ref-4 [5]: #ref-5 [6]: #ref-7 [7]: #ref-6 [8]: #ref-8 [9]: #xref-ref-1-1 "View reference 1. in text" [10]: #xref-ref-2-1 "View reference 2. in text" [11]: #xref-ref-3-1 "View reference 3. in text" [12]: #xref-ref-4-1 "View reference 4. in text" [13]: #xref-ref-5-1 "View reference 5. in text" [14]: #xref-ref-6-1 "View reference 6. in text" [15]: #xref-ref-7-1 "View reference 7. in text" [16]: #xref-ref-8-1 "View reference 8. in text"