Effective strategies for forensic analysis in the mitochondrial DNA coding region

International Journal of Legal Medicine

Volumn 120, Issue 1, 2006, Pages 27-32

  Coble, Michael D ^a   Vallone, Peter M ^a   Just, Rebecca S ^b   Diegoli, Toni M ^b   Smith, Brion C ^b   Parsons, Thomas J ^b  

^a NATIONAL INSTITUTE OF STANDARDS AND TECHNOLOGY   (United States)

^b Armed Forces DNA Identification Laboratory   (United States)

Author keywords

Increased forensic discrimination; Mitochondrial DNA; mtDNA coding region; Single nucleotide polymorphism

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CONTROLLED STUDY; DATA BASE; DISEASE ASSOCIATION; DNA DETERMINATION; DNA SEQUENCE; FORENSIC IDENTIFICATION; GENETIC ASSOCIATION; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; QUALITY CONTROL; QUANTITATIVE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

COMPLEMENTARITY DETERMINING REGIONS; DNA FINGERPRINTING; DNA, MITOCHONDRIAL; HUMANS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 29244440850     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-005-0044-z     Document Type: Article

References (26)

1. Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon JM, Roostalu U, Loogvali EL, Kivisild T, Bandelt HJ, Richards M, Villems R, Santachiara- Benerecetti AS, Semino O, Torroni A (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75:910-918
2. Allen M, Andreasson H (2005) Mitochondrial D-loop and coding sequence analysis using pyrosequencing. Methods Mol Biol 297:179-196
3. Anderson S, Bankier AT, Barrell BG, deBrujin MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457-465
4. Andreasson H, Asp A, Alderborn A, Gyllensten U, Allen M (2002) Mitochondrial sequence analysis for forensic identification using pyrosequencing technology. Biotechniques 32:124-133
5. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147
6. Budowle B, Gyllensten U, Chakraborty R, Allen M (2005) Forensic analysis of the mitochondrial coding region and association to disease. Int J Legal Med 119:314-315. Epub Apr 21, 2005
7. Butler JM, Schoske R, Vallone PM, Redman JW, Kline MC (2003) Allele frequencies for 15 autosomal STR loci on U. S. Caucasian, African American, and Hispanic populations. J Forensic Sci 48:908-911
8. Coble MD (2004) The identification of single nucleotide polymorphisms in the entire mitochondrial genome to increase the forensic discrimination of common HV1/HV2 types in the Caucasian population. Ph.D. dissertation, The George Washington University. Available as a pdf file at: http://www.cstl.nist.gov/ biotech/strbase/pub_pres/Coble2004dis.pdf
9. Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Parsons TJ (2004) Single nucleotide polymorphisms over the entire mtDNA genome that increase the forensic power of mtDNA testing in Caucasians. Int J Legal Med 118:137-146
10. Edson SM, Ross JR, Coble MD, Parsons TJ, Barritt SM (2004) Naming the dead-confronting the realities of rapid identification of degraded skeletal remains. Forensic Sci Rev 16(1):64-89
11. Finnila S, Lehtonen MS, Majamaa K (2001) Phylogenetic network for European mtDNA. Am J Hum Genet 68:1475-1484
12. Herrnstadt C, Howell N (2004) An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders. Mitochondrion 4:791-798
13. Herrnstadt C, Elson JL, Fahy E, Preston G, Tumbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 70:1152-1171
14. Kline MC, Vallone PM, Redman JW, Duewer DL, Galloway CD, Butler JM (2005) Mitochondrial DNA typing screens with control region and coding region SNPs. J Forensic Sci 50:377-385
15. Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, Zhang YP (2003) Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 73:671-666
16. Lee SD, Lee YS, Lee JB (2002) Polymorphism in the mitochondrial cytochrome B gene in Koreans. An additional marker for individual identification. Int J Legal Med 116:74-78
17. Levin BC, Holland KA, Hancock DK, Coble M, Parsons TJ, Kienker LJ, Williams DW, Jones M, Richie KL (2003) Comparison of the complete mtDNA genome sequences of human cell lines-HL-60 and GM10742A-from individuals with pro-myelocytic leukemia and Leber heredity optic neuropathy, respectively, and the inclusion of HL-60 in the NIST human mitochondrial DNA standard reference material-SRM 2392-1. Mitochondrion 2:387-400
18. Lutz-Bonengel S, Schmidt U, Schmitt T, Pollak S (2003) Sequence polymorphisms within the human mitochondrial genes MTATP6, MTATP8, and MTND4. Int J Legal Med 117:133-142
19. Macaulay V, Richards M, Hickey E, Vega E, Cruciani F, Guida V, Scozzari R, Bonne-Tamir B, Sykes B, Torroni A (1999) The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am J Hum Genet 64:232-249
20. Parsons TJ, Coble MD (2001) Increasing the forensic discrimination of mitochondrial DNA testing through analysis of the entire mitochondrial DNA genome. Croat Med J 42:304-309
21. Szibor R, Hering S, Edelmann J (2005) The HumARA genotype is linked to spinal and bulbar muscular dystrophy and some further disease risks and should no longer be used as a DNA marker for forensic purposes. Int J Legal Med 119 (3):179-180
22. Tanaka M, Takeyasu T, Fuku N, Li-Jun G, Kurata M (2004) Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese. Ann N Y Acad Sci 1011:7-20
23. Tanaka M, Cabrera VM, Gonzalez AM, Larruga JM, Takeyasu T, Fuku N, Guo LJ, Hirose R, Fujita Y, Kurata M, Shinoda K, Umetsu K, Yamada Y, Oshida Y, Sato Y, Hattori N, Mizuno Y, Arai Y, Hirose N, Ohta S, Ogawa O, Tanaka Y, Kawamori R, Shamoto-Nagai M, Maruyama W, Shimokata H, Suzuki R, Shimodaira H (2004b) Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14:1832-1850
24. Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics 144:1835-1850
25. Tzen CY, Wu TY, Liu HF (2001) Sequence polymorphism in the coding region of mitochondrial genome encompassing position 8389-8865. Forensic Sci Int 120:204-209
26. Vallone PM, Just RS, Coble MD, Butler JM, Parsons TJ (2004) A multiplex allele-specific primer extension assay for forensically informative SNPs distributed throughout the mitochondrial genome. Int J Legal Med 118:147-157