Increasing the discrimination power of forensic STR testing by employing high-performance mass spectrometry, as illustrated in indigenous South African and Central Asian populations

International Journal of Legal Medicine

Volumn 124, Issue 6, 2010, Pages 551-558

  Pitterl, Florian ^a   Schmidt, Konrad ^a   Huber, Gabriela ^a   Zimmermann, Bettina ^a   Delport, Rhena ^b   Amory, Sylvain ^a,c,d   Ludes, Bertrand ^c   Oberacher, Herbert ^a   Parson, Walther ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF PRETORIA   (South Africa)

^c INSTITUT DE MÉDECINE LÉGALE   (France)

^d International Commission on Missing Persons   (Bosnia and Herzegovina)

Author keywords

Forensic science; Khoisan; Liquid chromatography; Mass spectrometry; Short tandem repeats; Yakut

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; ASIAN; COMPARATIVE STUDY; FORENSIC GENETICS; FORENSIC MEDICINE; GENETIC VARIABILITY; GENETICS; GENOTYPE; HUMAN; MASS SPECTROMETRY; METHODOLOGY; NEGRO; POPULATION GENETICS;

AFRICAN CONTINENTAL ANCESTRY GROUP; ASIAN CONTINENTAL ANCESTRY GROUP; FORENSIC GENETICS; FORENSIC MEDICINE; GENETIC VARIATION; GENETICS, POPULATION; GENOTYPE; HUMANS; MASS SPECTROMETRY; MICROSATELLITE REPEATS;

EID: 78651254199     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-009-0408-x     Document Type: Article

References (21)

1. Jobling MA, Gill P (2004) Encoded evidence: DNA in forensic analysis. Nat Rev Genet 5:739-751, Erratum in: Nat Rev Genet 2005 6:246
2. Bär W, Brinkmann B, Budowle B, Carracedo A, Gill P, Lincoln P, Mayr W, Olaisen B (1997) DNA recommendations. Further report of the DNA commission of the ISFH regarding the use of short tandem repeat systems. Int J Leg Med 110:175-176 (Pubitemid 27323768)
3. Gill P, Fereday L, Morling N, Schneider PM (2006) The evolution of DNA databases-recommendations for new European STR loci. Forensic Sci Int 156:242-244
4. Gill P, Fereday L, Morling N, Schneider PM (2006) New multiplexes for Europe-amendments and clarification of strategic development. Forensic Sci Int 163:155-157
5. Gill P, Werrett DJ, Budowle B, Guerrieri R (2004) An assessment of whether SNPs will replace STRs in national DNA databases-joint considerations of the DNA working group of the European Network of Forensic Science Institutes (ENFSI) and the Scientific Working Group on DNA Analysis Methods (SWGDAM). Sci Justice 44:51-53
6. Oberacher H, Pitterl F, Huber G, Niederstätter H, Parson W (2008) Increased forensic efficiency of DNA fingerprints through simultaneous resolution of length and nucleotide variability by high-performance mass spectrometry. Hum Mutat 29:427-432
7. Pitterl F, Niederstätter H, Huber G, Zimmermann B, Oberacher H, Parson W (2008) The next generation of DNA profiling-STR typing by multiplexed PCR-ion-pair RP LC-ESI time-of-flight MS. Electrophoresis 29:4739-4750
8. Keyser-Tracqui C, Crubézy E, Pamzsav H, Varga T, Ludes B (2006) Population origins in Mongolia: genetic structure analysis of ancient and modern DNA. Am J Phys Anthropol 131:272-281
9. Kraft HG, Lingenhel A, Pang RW, Delport R, Trommsdorff M, Vermaak H, Janus ED, Utermann G (1996) Frequency distributions of apolipoprotein(a) kringle IV repeat alleles and their effects on lipoprotein(a) levels in Caucasian, Asian, and African populations: the distribution of null alleles is non-random. Eur J Hum Genet 4:74-87
10. Oberacher H, Niederstätter H, Parson W (2005) Characterization of synthetic nucleic acids by electrospray ionization quadrupole time-of-flight mass spectrometry. J Mass Spectrom 40:932-945
11. Premstaller A, Oberacher H, Huber CG (2000) High-performance liquid chromatography-electrospray ionization mass spectrometry of single- and double-stranded nucleic acids using monolithic capillary columns. Anal Chem 72:4386-4393
12. Oberacher H, Niederstätter H, Casetta B, Parson W (2005) Detection of DNA sequence variations in homo- and heterozygous samples via molecular mass measurements by electrospray ionization time-offlight mass spectrometry. Anal Chem 77:4999-5008
13. Grubwieser P, Zimmermann B, Niederstätter H, Pavlic M, Steinlechner M, Parson W (2007) Evaluation of an extended set of 15 candidate STR loci for paternity and kinship analysis in an Austrian population sample. Int J Legal Med 121:85-89
14. Huber CG, Oberacher H (2001) Analysis of nucleic acids by online liquid chromatography-mass spectrometry. Mass Spectrom Rev 20:310-343
15. Oberacher H, Parson W (2007) Forensic DNA fingerprinting by liquid chromatography-electrospray ionization mass spectrometry. Biotechniques 43:vii-xiii
16. Oberacher H (2008) On the use of different mass spectrometric techniques for characterization of sequence variability in genomic DNA. Anal Bioanal Chem 391:135-149
17. Grubwieser P, Mühlmann R, Berger B, Niederstätter H, Pavlic M, Parson W (2006) A new "miniSTR-multiplex" displaying reduced amplicon lengths for the analysis of degraded DNA. Int J Legal Med 120:115-120
18. Möller A, Brinkmann B (1994) Locus ACTBP2 (SE33). Sequencing data reveal considerable polymorphism. Int J Legal Med 106:262-267. Erratum in: Int J Legal Med 1997 110:46.
19. Planz JV, Budowle B, Hall T, Eisenberg AJ, Sannes-Lowery KA, Hofstadler SA (2009) Enhancing resolution and statistical power by utilizing mass spectrometry for detection of SNPs within the short tandem repeats. Forensic Sci Int Gene Suppl 2:529-531. doi:10.1016/j.fsigss.2009.08.163
20. Clayton TM, Hill SM, Denton LA, Watson SK, Urquhart AJ (2004) Primer binding site mutations affecting the typing of STR loci contained within the AMPFlSTR SGM Plus kit. Forensic Sci Int 139:255-259
21. Tishkoff SA, Reed FA, Friedlaender FR et al (2009) The genetic structure and history of Africans and African Americans. Science 324:1035-1044