Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification

International Journal of Legal Medicine

Volumn 120, Issue 3, 2006, Pages 151-156

  Grignani, P ^a   Peloso, G ^a   Achilli, A ^a   Turchi, C ^b   Tagliabracci, A ^b   Alu M ^c   Beduschi, G ^c   Ricci, U ^d   Giunti, L ^d   Robino, C ^e   Gino, S ^e   Previdere C ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e UNIVERSITY OF TURIN   (Italy)

Author keywords

Haplogroups; HVS; MtDNA; Primer extension methods; SNPs

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CAUCASIAN; CLADISTICS; DNA FINGERPRINTING; DNA SEQUENCE; FORENSIC IDENTIFICATION; GENOTYPE; HAPLOTYPE; HUMAN; ITALY; NORMAL HUMAN; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TIME;

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

EID: 33645824107     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-005-0059-5     Document Type: Article

References (24)

1. Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC (1994) mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 55:760-776
2. Krings M, Stone A, Schmitz RW, Krainitzki H, Stoneking M, Paabo S (1997) Neanderthal DNA sequences and the origin of modern humans. Cell 90:19-30
3. Ingman M, Kaessmann H, Paabo S, Gyllensten U (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408:708-713
4. Taylor RW, Turnbull DM (2005) Mitochondrial DNA mutations in human disease. Nat Rev Genet 6:389-402
5. Budowle B, Wilson MR, DiZinno JA, Stauffer C, Fasano MA, Holland MM, Monson KL (1999) Mitochondrial DNA regions HVI and HVII population data. Forensic Sci Int 103:23-35
6. Richards M, Macaulay V, Hickey E et al. (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67:1251-1276
7. Brandstatter A, Parsons TJ, Parson W (2003) Rapid screening of mtDNA coding region SNPs for the identification of west European Caucasian haplogroups. Int J Legal Med 117:291-298
8. Quintans B, Alvarez-Iglesias V, Salas A, Phillips C, Lareu MV, Carracedo A (2004) Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing. Forensic Sci Int 140:251-257
9. Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ (2004) Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med 118:137-146
10. Loogvali EL, Roostalu U, Malyarchuk BA et al. (2004) Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol 21:2012-2021
11. Pereira L, Richards M, Goios A et al. (2005) High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Genome Res 15:19-24
12. Achilli A, Rengo C, Magri C et al. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian refuge was a major source for the European gene pool. Am J Hum Genet 75:910-918
13. Walsh PS, Metzger DA, Higuchi R (1991) Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques 10:506-513
14. Torroni A, Huoponen K, Francalacci P et al. (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics 144:1835-1850
15. Parson W, Brandstatter A, Alonso A et al. (2004) The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives. Forensic Sci Int 139:215-226
16. Bandelt HJ, Salas A, Lutz-Bonengel S (2004) Artificial recombination in forensic mtDNA population databases. Int J Legal Med 118:267-273
17. Bandelt HJ, Lahermo P, Richards M, Macaulay V (2001) Detecting errors in mtDNA data by phylogenetic analysis. Int J Legal Med 115:64-69
18. Herrnstadt C, Elson JL, Fahy E et al. (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
19. Gill P (2001) An assessment of the utility of single nucleotide polymorphisms (SNPs) for forensic purposes. Int J Legal Med 114:204-210
20. Richards MB, Macaulay VA, Bandelt HJ, Sykes BC (1998) Phylogeography of mitochondrial DNA in western Europe. Ann Hum Genet 62:241-260
21. Pereira L, Cunha C, Amorim A (2004) Predicting sampling saturation of mtDNA haplotypes: an application to an enlarged Portuguese database. Int J Legal Med 118:132-136
22. Pfeiffer H, Forster P, Ortmann C, Brinkmann B (2001) The results of an mtDNA study of 1200 inhabitants of a German village in comparison to other Caucasian databases and its relevance for forensic casework. Int J Legal Med 114:169-172
23. Gabriel MN, Calloway CD, Reynolds RL, Primorac D (2003) Identification of human remains by immobilized sequence-specific oligonucleotide probe analysis of mtDNA hypervariable regions I and II. Croat Med J 44:293-298
24. Boles TC, Snow CC, Stover E (1995) Forensic DNA testing on skeletal remains from mass graves: a pilot project in Guatemala. J Forensic Sci 40:349-355