Skip to main content
Erschienen in: International Journal of Legal Medicine 4/2009

01.07.2009 | Short Communication

Subtyping of Y-chromosomal haplogroup E-M78 (E1b1b1a) by SNP assay and its forensic application

verfasst von: S. Caratti, S. Gino, C. Torre, C. Robino

Erschienen in: International Journal of Legal Medicine | Ausgabe 4/2009

Einloggen, um Zugang zu erhalten

Abstract

The continual discovery of new single-nucleotide polymorphisms (SNPs) has led to an increased resolution of the Y chromosome phylogeny. Some of these Y-SNPs have shown to be restricted to small geographical regions and therefore may prove useful in the forensic field as tools for the prediction of population of origin of unknown casework samples. Here, we describe a system for the molecular dissection of haplogroup E-M78 (E1b1b1a), consisting of multiplex polymerase chain reaction and minisequencing of M78 and nine population-informative Y-SNPs (M148, M224, V12, V13, V19, V22, V27, V32, V65) in a single reaction. Sensitivity and admixture studies demonstrated that the SNP protocol allows robust genotyping from as little as 50 pg of male DNA, even in the presence of 500-fold amounts of female DNA. In order to evaluate the suitability of E1b1b1a, subhaplogrouping for population-of-origin prediction, the distribution of E-M78 and its derived variants was determined in an Italian population sample (n = 326).
Anhänge
Nur mit Berechtigung zugänglich
Literatur
1.
Zurück zum Zitat Prinz M, Boll K, Baum H, Shaler B (1997) Multiplexing of Y chromosome specific STRs and performance for mixed samples. Forensic Sci Int 85:209–218PubMedCrossRef Prinz M, Boll K, Baum H, Shaler B (1997) Multiplexing of Y chromosome specific STRs and performance for mixed samples. Forensic Sci Int 85:209–218PubMedCrossRef
2.
Zurück zum Zitat Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598–612PubMedCrossRef Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598–612PubMedCrossRef
3.
Zurück zum Zitat Jobling MA (2001) Y-chromosomal SNP haplotype diversity in forensic analysis. Forensic Sci Int 118:158–162PubMedCrossRef Jobling MA (2001) Y-chromosomal SNP haplotype diversity in forensic analysis. Forensic Sci Int 118:158–162PubMedCrossRef
4.
Zurück zum Zitat Amigo J, Phillips C, Lareu M, Carracedo A (2008) The SNPforID browser: an online tool for query and display of frequency data from the SNPforID project. Int J Legal Med 122:435–440PubMedCrossRef Amigo J, Phillips C, Lareu M, Carracedo A (2008) The SNPforID browser: an online tool for query and display of frequency data from the SNPforID project. Int J Legal Med 122:435–440PubMedCrossRef
5.
Zurück zum Zitat Szibor R, Plate I, Schmitter H, Wittig H, Krause D (2006) Forensic mass screening using mtDNA. Int J Legal Med 120:372–376PubMedCrossRef Szibor R, Plate I, Schmitter H, Wittig H, Krause D (2006) Forensic mass screening using mtDNA. Int J Legal Med 120:372–376PubMedCrossRef
6.
Zurück zum Zitat Köhnemann S, Sibbing U, Pfeiffer H, Hohoff C (2008) A rapid mtDNA assay of 22 SNPs in one multiplex reaction increases the power of forensic testing in European Caucasians. Int J Legal Med 122:517–523PubMedCrossRef Köhnemann S, Sibbing U, Pfeiffer H, Hohoff C (2008) A rapid mtDNA assay of 22 SNPs in one multiplex reaction increases the power of forensic testing in European Caucasians. Int J Legal Med 122:517–523PubMedCrossRef
7.
Zurück zum Zitat Dixon LA, Murray CM, Archer EJ, Dobbins AE, Koumi P, Gill P (2005) Validation of a 21-locus autosomal SNP multiplex for forensic identification purposes. Forensic Sci Int 154:62–77PubMedCrossRef Dixon LA, Murray CM, Archer EJ, Dobbins AE, Koumi P, Gill P (2005) Validation of a 21-locus autosomal SNP multiplex for forensic identification purposes. Forensic Sci Int 154:62–77PubMedCrossRef
8.
Zurück zum Zitat Sobrino B, Brión M, Carracedo A (2005) SNPs in forensic genetics: a review on SNP typing methodologies. Forensic Sci Int 154:181–194PubMedCrossRef Sobrino B, Brión M, Carracedo A (2005) SNPs in forensic genetics: a review on SNP typing methodologies. Forensic Sci Int 154:181–194PubMedCrossRef
9.
Zurück zum Zitat Sanchez JJ, Børsting C, Hallenberg C, Buchard A, Hernandez A, Morling N (2003) Multiplex PCR and minisequencing of SNPs-a model with 35 Y chromosome SNPs. Forensic Sci Int 137:74–84PubMedCrossRef Sanchez JJ, Børsting C, Hallenberg C, Buchard A, Hernandez A, Morling N (2003) Multiplex PCR and minisequencing of SNPs-a model with 35 Y chromosome SNPs. Forensic Sci Int 137:74–84PubMedCrossRef
10.
Zurück zum Zitat Brión M, Sanchez JJ, Balogh K et al (2005) Introduction of an single nucleodite polymorphism-based “Major Y-chromosome haplogroup typing kit” suitable for predicting the geographical origin of male lineages. Electrophoresis 26:4411–4420PubMedCrossRef Brión M, Sanchez JJ, Balogh K et al (2005) Introduction of an single nucleodite polymorphism-based “Major Y-chromosome haplogroup typing kit” suitable for predicting the geographical origin of male lineages. Electrophoresis 26:4411–4420PubMedCrossRef
11.
Zurück zum Zitat Onofri V, Alessandrini F, Turchi C, Pesaresi M, Buscemi L, Tagliabracci A (2006) Development of multiplex PCRs for evolutionary and forensic applications of 37 human Y chromosome SNPs. Forensic Sci Int 157:23–35PubMedCrossRef Onofri V, Alessandrini F, Turchi C, Pesaresi M, Buscemi L, Tagliabracci A (2006) Development of multiplex PCRs for evolutionary and forensic applications of 37 human Y chromosome SNPs. Forensic Sci Int 157:23–35PubMedCrossRef
12.
Zurück zum Zitat Wetton JH, Tsang KW, Khan H (2005) Inferring the population of origin of DNA evidence within the UK by allele-specific hybridization of Y-SNPs. Forensic Sci Int 152:45–53PubMedCrossRef Wetton JH, Tsang KW, Khan H (2005) Inferring the population of origin of DNA evidence within the UK by allele-specific hybridization of Y-SNPs. Forensic Sci Int 152:45–53PubMedCrossRef
13.
Zurück zum Zitat King TE, Parkin EJ, Swinfield G et al (2007) Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy. Eur J Hum Genet 15:288–293PubMedCrossRef King TE, Parkin EJ, Swinfield G et al (2007) Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy. Eur J Hum Genet 15:288–293PubMedCrossRef
14.
Zurück zum Zitat Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF (2008) New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res 18:830–838PubMedCrossRef Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF (2008) New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res 18:830–838PubMedCrossRef
15.
Zurück zum Zitat Cruciani F, La Fratta R, Torroni A, Underhill PA, Scozzari R (2006) Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers. Hum Mutat 27:831–832PubMedCrossRef Cruciani F, La Fratta R, Torroni A, Underhill PA, Scozzari R (2006) Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers. Hum Mutat 27:831–832PubMedCrossRef
16.
Zurück zum Zitat Cruciani F, La Fratta R, Trombetta B et al (2007) Tracing past human male movements in northern/eastern Africa and western Eurasia: new clues from Y-chromosomal haplogroups E-M78 and J-M12. Mol Biol Evol 24:1300–1311PubMedCrossRef Cruciani F, La Fratta R, Trombetta B et al (2007) Tracing past human male movements in northern/eastern Africa and western Eurasia: new clues from Y-chromosomal haplogroups E-M78 and J-M12. Mol Biol Evol 24:1300–1311PubMedCrossRef
17.
Zurück zum Zitat Cruciani F, La Fratta R, Santolamazza P et al (2004) Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa. Am J Hum Genet 74:1014–1022PubMedCrossRef Cruciani F, La Fratta R, Santolamazza P et al (2004) Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa. Am J Hum Genet 74:1014–1022PubMedCrossRef
18.
Zurück zum Zitat Underhill PA, Passarino G, Lin AA et al (2001) The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet 65:43–62PubMedCrossRef Underhill PA, Passarino G, Lin AA et al (2001) The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet 65:43–62PubMedCrossRef
19.
Zurück zum Zitat Lindblad-Toh K, Winchester E, Daly MJ et al (2000) Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nat Genet 24:381–386PubMedCrossRef Lindblad-Toh K, Winchester E, Daly MJ et al (2000) Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nat Genet 24:381–386PubMedCrossRef
20.
Zurück zum Zitat Anslinger K, Keil W, Weichhold G, Eisenmenger W (2000) Y-chromosomal STR haplotypes in a population sample from Bavaria. Int J Legal Med 113:189–192PubMedCrossRef Anslinger K, Keil W, Weichhold G, Eisenmenger W (2000) Y-chromosomal STR haplotypes in a population sample from Bavaria. Int J Legal Med 113:189–192PubMedCrossRef
21.
Zurück zum Zitat Konrad KD, Pentoney SL Jr (1993) Contribution of secondary structure to DNA mobility in capillary gels. Electrophoresis 14:502–508PubMedCrossRef Konrad KD, Pentoney SL Jr (1993) Contribution of secondary structure to DNA mobility in capillary gels. Electrophoresis 14:502–508PubMedCrossRef
22.
Zurück zum Zitat 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 118:147–157PubMedCrossRef 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 118:147–157PubMedCrossRef
23.
Zurück zum Zitat Gill P, Whitaker J, Flaxman C, Brown N, Buckleton J (2000) An investigation of the rigor of interpretation rules for STRs derived from less than 100 pg of DNA. Forensic Sci Int 112:17–40PubMedCrossRef Gill P, Whitaker J, Flaxman C, Brown N, Buckleton J (2000) An investigation of the rigor of interpretation rules for STRs derived from less than 100 pg of DNA. Forensic Sci Int 112:17–40PubMedCrossRef
24.
Zurück zum Zitat Di Gaetano C, Cerutti N, Crobu F et al (2008) Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome. Eur J Hum Genet . doi:10.1038/ejhg.2008.120 PubMed Di Gaetano C, Cerutti N, Crobu F et al (2008) Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome. Eur J Hum Genet . doi:10.​1038/​ejhg.​2008.​120 PubMed
25.
Zurück zum Zitat Semino O, Magri C, Benuzzi G et al (2004) Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area. Am J Hum Genet 74:1023–1034PubMedCrossRef Semino O, Magri C, Benuzzi G et al (2004) Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area. Am J Hum Genet 74:1023–1034PubMedCrossRef
26.
Zurück zum Zitat Bosch E, Calafell F, Santos FR et al (1999) Variation in short tandem repeats is deeply structured by genetic background on the human Y chromosome. Am J Hum Genet 65:1623–1638PubMedCrossRef Bosch E, Calafell F, Santos FR et al (1999) Variation in short tandem repeats is deeply structured by genetic background on the human Y chromosome. Am J Hum Genet 65:1623–1638PubMedCrossRef
27.
Zurück zum Zitat Forster P, Röhl A, Lünnemann P, Brinkmann C, Zerjal T, Tyler-Smith C, Brinkmann B (2000) A short tandem repeat-based phylogeny for the human Y chromosome. Am J Hum Genet 67:182–196PubMedCrossRef Forster P, Röhl A, Lünnemann P, Brinkmann C, Zerjal T, Tyler-Smith C, Brinkmann B (2000) A short tandem repeat-based phylogeny for the human Y chromosome. Am J Hum Genet 67:182–196PubMedCrossRef
28.
Zurück zum Zitat Robino C, Crobu F, Di Gaetano C et al (2008) Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample. Int J Leg Med 122:251–255CrossRef Robino C, Crobu F, Di Gaetano C et al (2008) Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample. Int J Leg Med 122:251–255CrossRef
29.
Zurück zum Zitat De Knijff P (2000) Messages through bottlenecks: on the combined use of slow and fast evolving polymorphic markers on the human Y chromosome. Am J Hum Genet 67:1055–1061PubMedCrossRef De Knijff P (2000) Messages through bottlenecks: on the combined use of slow and fast evolving polymorphic markers on the human Y chromosome. Am J Hum Genet 67:1055–1061PubMedCrossRef
30.
Zurück zum Zitat Schlecht J, Kaplan ME, Barnard K, Karafet T, Hammer MF, Merchant NC (2008) Machine-learning approaches for classifying haplogroup from Y chromosome STR data. PLoS Comput Biol 4:e1000093PubMedCrossRef Schlecht J, Kaplan ME, Barnard K, Karafet T, Hammer MF, Merchant NC (2008) Machine-learning approaches for classifying haplogroup from Y chromosome STR data. PLoS Comput Biol 4:e1000093PubMedCrossRef
31.
Zurück zum Zitat Bouakaze C, Keyser C, Amory S, Crubézy E, Ludes B (2007) First successful assay of Y-SNP typing by SnaPshot minisequencing on ancient DNA. Int J Legal Med 121:493–499PubMedCrossRef Bouakaze C, Keyser C, Amory S, Crubézy E, Ludes B (2007) First successful assay of Y-SNP typing by SnaPshot minisequencing on ancient DNA. Int J Legal Med 121:493–499PubMedCrossRef
Metadaten
Titel
Subtyping of Y-chromosomal haplogroup E-M78 (E1b1b1a) by SNP assay and its forensic application
verfasst von
S. Caratti
S. Gino
C. Torre
C. Robino
Publikationsdatum
01.07.2009
Verlag
Springer-Verlag
Erschienen in
International Journal of Legal Medicine / Ausgabe 4/2009
Print ISSN: 0937-9827
Elektronische ISSN: 1437-1596
DOI
https://doi.org/10.1007/s00414-009-0350-y

Weitere Artikel der Ausgabe 4/2009

International Journal of Legal Medicine 4/2009 Zur Ausgabe

Neu im Fachgebiet Rechtsmedizin

Molekularpathologische Untersuchungen im Wandel der Zeit

Open Access Biomarker Leitthema

Um auch an kleinen Gewebeproben zuverlässige und reproduzierbare Ergebnisse zu gewährleisten ist eine strenge Qualitätskontrolle in jedem Schritt des Arbeitsablaufs erforderlich. Eine nicht ordnungsgemäße Prüfung oder Behandlung des …

Vergleichende Pathologie in der onkologischen Forschung

Pathologie Leitthema

Die vergleichende experimentelle Pathologie („comparative experimental pathology“) ist ein Fachbereich an der Schnittstelle von Human- und Veterinärmedizin. Sie widmet sich der vergleichenden Erforschung von Gemeinsamkeiten und Unterschieden von …

Gastrointestinale Stromatumoren

Open Access GIST CME-Artikel

Gastrointestinale Stromatumoren (GIST) stellen seit über 20 Jahren ein Paradigma für die zielgerichtete Therapie mit Tyrosinkinaseinhibitoren dar. Eine elementare Voraussetzung für eine mögliche neoadjuvante oder adjuvante Behandlung bei …

Personalisierte Medizin in der Onkologie

Aufgrund des erheblichen technologischen Fortschritts in der molekularen und genetischen Diagnostik sowie zunehmender Erkenntnisse über die molekulare Pathogenese von Krankheiten hat in den letzten zwei Jahrzehnten ein grundlegender …