International Journal of Legal Medicine

, Volume 123, Issue 4, pp 357–360

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

Short Communication

DOI: 10.1007/s00414-009-0350-y

Cite this article as:
Caratti, S., Gino, S., Torre, C. et al. Int J Legal Med (2009) 123: 357. doi:10.1007/s00414-009-0350-y


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).


Forensic genetics Y chromosome Single-nucleotide polymorphism Haplogroup Minisequencing 

Supplementary material

414_2009_350_MOESM1_ESM.pdf (81 kb)
Table S1Characteristics of multiplex PCR primers used in this study (PDF 81 kb)
414_2009_350_MOESM2_ESM.pdf (31 kb)
Table S2Characteristics of SBE primers (PDF 30 kb)
414_2009_350_MOESM3_ESM.pdf (19 kb)
Table S3Amplicon size and mean peak height ratio of SBE products in wild-type and mutated individuals (PDF 19 kb)
414_2009_350_MOESM4_ESM.pdf (16 kb)
Table S4Frequency distribution of E-M78 and its subhaplogroups in the Italian population sample (PDF 16 kb)
414_2009_350_MOESM5_ESM.pdf (46 kb)
Table S5List of Y-STR minimal haplotypes observed in Italians carrying E-M78 subhaplogroups (PDF 46 kb)
414_2009_350_MOESM6_ESM.pdf (54 kb)
Fig. S1Phylogenetic tree of Y-chromosomal haplogroup E (PDF 54 kb)
414_2009_350_MOESM7_ESM.pdf (525 kb)
Fig. S2Frequency contour maps of E-M78 and its subhaplogroups (PDF 525 kb)
414_2009_350_MOESM8_ESM.pdf (157 kb)
Fig. S3Representative electropherograms of haplogroups observed in the Italian population sample (PDF 156 kb)
414_2009_350_MOESM9_ESM.pdf (221 kb)
Fig. S4Y-SNP profiles in admixture and sensitivity studies (PDF 220 kb)

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.Department of Anatomy, Pharmacology, and Legal MedicineUniversity of TurinTurinItaly

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