Caratti et al. (2009)

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Caratti et al. (2009)

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

International Journal of Legal Medicine Received: 13 November 2008 Accepted: 22 April 2009 Published online: 9 May 2009

http://www.springerlink.com/content/907v531h2757w162/

DOI 10.1007/s00414-009-0350-y

S. Caratti 1, S. Gino 1, C. Torre 1 and C. Robino 1

(1) Department of Anatomy, Pharmacology, and Legal Medicine, University of Turin, Corso Galileo Galilei 22, 10126 Turin, Italy

Email: carlo.robino@unito.it

Contents 1 Abstract 2 An online discussion about this article's E-M35 data 3 SNP Data 4 STR Data

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). Electronic supplementary material The online version of this article (doi:10.1007/s00414-009-0350-y) contains supplementary material, which is available to authorized users.

An online discussion about this article's E-M35 data

http://community.haplozone.net/index.php?topic=1378.0

SNP Data

The Sicily data is the same as in Di Gaetano et al. (2008). The Piedmont data seems to be new for this article.

Y-SNP	Total (n--326)	Piedmont (n--90)	Sicily (n--236)
M78	10.43%	7.78%	11.44%
M148	-	-	-
M224	-	-	-
V12	1.53%	2.22%	1.27%
V13	5.21%	3.33%	5.93%
V19	-	-	-
V22	3.07%	2.22%	3.39%
V27	-	-	-
V32	-	-	-
V65	0.61%	-	0.85%

STR Data

Origin	sample ID	Y-SNP	DYS19	DYS389I	DYS389II	DYS390	DYS391	DYS392	DYS393	DYS385
S	rg425	V12	13	12	29	23	10	11	13	15.16
S	rg404	V65	13	12	29	23	10	11	13	17.19
P	cn101	V13	13	12	29	24	10	11	13	16.19
S	tp19	V65	13	12	29	25	10	11	12	17.18
S	pi17	V12	13	13	30	22	10	11	13	15.16
S	sn34	V13	13	13	30	23	10	11	13	16.17
S	ma30	V12	13	13	30	23	10	11	13	17.18
S	tp22	V13	13	13	30	23	10	11	13	15.18
P	cn40	V13	13	13	30	24	10	11	12	15.18
P	cn9	V13	13	13	30	24	10	11	13	16.17
S	tp26	V13	13	13	30	24	10	11	13	16.19
S	tr535	V13	13	13	30	24	10	11	13	17.18
S	pi37	V13	13	13	30	24	10	12	13	16.19
P	cn28	V12	13	13	30	24	11	11	13	15.17
S	ca731	V13	13	13	30	24	11	11	13	16.18
S	sn21	V13	13	13	30	25	10	11	13	16.18
S	tr507	V13	13	13	30	25	11	11	13	16.19
S	sn4	V13	13	13	31	23	10	11	13	16.19
S	tp4	V13	13	13	31	24	10	11	13	16.18
P	cn60	V12	13	13	31	24	11	11	13	16.16
S	pi22	V13	13	14	31	24	10	11	12	15.19
S	pi42	V13	13	14	31	24	10	11	13	16.19
S	sn30	V13	13	14	31	24	10	11	13	16.18
S	pi25	V13	13	14	31	24	10	11	13	18.18
S	sc47	V22	14	12	29	23	10	11	13	17.18
S	sc55	V22	14	12	29	23	10	11	13	17.18
P	cn15	V22	14	12	29	24	10	11	13	17.18
S	maz24	V22	14	13	29	24	10	11	13	16.19
S	tr502	V22	14	13	30	23	11	11	13	18.18
S	tr569	V22	14	13	30	23	11	11	13	18.18
P	cn56	V22	14	13	30	24	10	11	13	0,017
S	pi23	V22	14	13	30	24	10	11	13	18.19
S	tr515	V22	14	13	30	24	10	11	13	18.19
S	pi18	V22	14	14	31	25	10	11	13	19.19