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Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393) were analyzed in the sample of 117 unrelated Albanian males living in Kosovo. A general STR allelic frequency pattern in the Albanian population from Kosovo corresponds to other European populations. Fourty six haplotypes were observed in single copy. The most frequent haplotypes were (DYS19-DYS385-DYS389I-DYS389II-DYS390-DYS391-DYS392-DYS393) 14-11/11-13-29-24-11-13-13 (10.26%), 14-14/17-12-28-24-10-11-12 (9.40%), 13-16/18-13-30-24-10-11-13 (9.40%), and 14-17/17-13-31-24-10-11-13 (9.40%).
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Announcement of population data
Y chromosome haplotypes in Albanian population from Kosovo
Marijana Peric
ˇic
´
a,*
, Lovorka Barac
´Lauc
a
, Irena Martinovic
´Klaric
´
a
,
Branka Janic
´ijevic
´
a
, Ibrahim Behluli
b
, Pavao Rudan
a
a
Institute for Anthropological Research, Amrus
ˇeva 8, 10000 Zagreb, Croatia
b
School of Medicine, Institute of Anatomy, University of Prishtina, Prishtina, Kosovo, Croatia
Received 16 February 2004; received in revised form 26 March 2004; accepted 5 April 2004
Available online 4 June 2004
Abstract
Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391,
DYS392, and DYS393) were analyzed in the sample of 117 unrelated Albanian males living in Kosovo. A general STR allelic
frequency pattern in the Albanian population from Kosovo corresponds to other European populations. Fourty six haplotypes
were observed in single copy. The most frequent haplotypes were (DYS19-DYS385-DYS389I-DYS389II-DYS390-DYS391-
DYS392-DYS393) 14-11/11-13-29-24-11-13-13 (10.26%), 14-14/17-12-28-24-10-11-12 (9.40%), 13-16/18-13-30-24-10-11-
13 (9.40%), and 14-17/17-13-31-24-10-11-13 (9.40%).
#2004 Elsevier Ireland Ltd. All rights reserved.
Keywords: Y chromosome; Short tandem repeats (STRs); Haplotypes; Kosovo
Population: 117 unrelated, autochthonous healthy adult
Albanians from Kosovo (Prishtina, Vitia and Gjakova areas)
participated in this study and gave their informed consent.
Extraction: The whole blood was obtained by venipunc-
ture and collected into EDTA tubes, followed by DNA
extraction using the salting-out procedure [1].
PCR: Seven tetranucleotide loci (DYS19, DYS385,
DYS389I, DYS389II, DYS390, DYS391, and DYS393)
and one trinucleotide (DYS392) were typed in two multiplex
reactions according to the Y STR Haplotype Reference
Database (http://www.ystr.org [2]). PCR reactions were
carried out in a GeneAmp PCR System (Applied Biosys-
tems, Foster City, CA) according to conditions described in
the YHRD.
Typing: PCR products were detected on an ABI PRISM
310 sequencer (Applied Biosystems). The GeneScan version
3.7 software (Applied Biosystems) was used to analyze
fragment sizes. The alleles were named according to the
number of repeat units based on the sequenced allelic ladders
as suggested by deKnijff et al. [3].
Results: The results are shown in Tables 1 and 2.
Data analysis: Allelic frequencies were estimated by
gene counting method. Haplotype and locus diversity within
population and exact test of population differentiation were
calculated using Arlequin 2.0 package [4].
Other remarks: Eight studied loci showed the allelic
frequency distribution (Table 1) similar to those previously
reported in other European populations [5,6] with the excep-
tion of loci DYS389II and DYS385. At DYS389II the most
frequent was the allele 30 as opposed to the most frequent
allele 29 [5,6], but similar to the finding of Croatians (as an
example of a Southeastern European population) where the
most frequent were alleles 30 and 31 [7]. At DYS385 the
most frequent was 11/11 as opposed to the most frequent 11/
14 [5].
The highest diversity (Table 2) that corresponds to the
highest discrimination value was found for the locus
DYS385 (0.916). The rest of the diversity values are in
concordance with the previously reported results [8–10].
Twenty two out of the sixty Albanian haplotypes were not
previously observed in the Y STR Haplotype Reference
Database (http://www.ystr.org [2]) among 13,986 minimal
haplotypes in a set of 94 European populations. Four most
Forensic Science International 146 (2004) 61–64
*
Corresponding author. Tel.: þ385-1-4816-904;
fax: þ385-1-4813-777.
E-mail address: mpericic@luka.inantro.hr (M. Peric
ˇic
´).
0379-0738/$ – see front matter #2004 Elsevier Ireland Ltd. All rights reserved.
doi:10.1016/j.forsciint.2004.04.006
Tab le 1
Allele frequencies at eight Y chromosome STRs in Albanians from Kosovo
Locus DYS19 Frequencies DYS385 Frequencies DYS389I Frequencies DYS389II Frequencies DYS390 Frequencies DYS391 Frequencies DYS392 Frequencies DYS393 Frequencies
Alleles 13 0.333 10/11 0.009 12 0.214 26 0.009 22 0.009 8 0.009 11 0.752 12 0.248
14 0.556 10/15 0.060 13 0.692 28 0.197 23 0.103 9 0.017 13 0.239 13 0.744
15 0.060 10/18 0.009 14 0.094 29 0.239 24 0.718 10 0.726 14 0.009 14 0.009
16 0.043 11/11 0.162 30 0.333 25 0.137 11 0.248
17 0.009 11/14 0.034 31 0.188 26 0.034
11/15 0.009 32 0.026
11/16 0.009 33 0.009
13/14 0.009
14/14 0.026
14/15 0.034
14/16 0.009
14/17 0.128
14/18 0.026
14/20 0.009
15/15 0.009
15/16 0.009
15/17 0.026
15/18 0.034
16/16 0.009
16/17 0.034
16/18 0.137
16/19 0.009
17/17 0.120
17/18 0.068
17/19 0.009
17/20 0.009
62 M. Peric
ˇic
´et al. / Forensic Science International 146 (2004) 6164
Table 2
Y STR haplotypes in Albanians from Kosovo
Haplotype nFrequencies
of halotype
DYS19 DYS385 DYS389I DYS389II DYS390 DYS391 DYS392 DYS393
1 1 0.0085 13 14/20 13 30 24 10 11 12
2 1 0.0085 17 11/14 13 31 24 11 11 13
3 11 0.0940 14 14/17 12 28 24 10 11 12
4 1 0.0085 15 11/15 13 30 24 11 11 13
5 1 0.0085 13 16/17 13 30 24 10 11 13
6 1 0.0085 14 11/11 13 29 25 11 13 13
7 1 0.0085 15 15/17 14 30 22 10 11 12
8 1 0.0085 13 15/18 13 30 24 10 11 13
9 2 0.0171 14 11/11 13 29 24 10 13 13
10 1 0.0085 13 16/17 13 32 24 10 11 13
11 1 0.0085 13 17/19 13 30 26 10 11 13
12 2 0.0171 15 14/17 12 28 24 10 11 12
13 4 0.0342 13 16/18 13 30 25 10 11 13
14 11 0.0940 13 16/18 13 30 24 10 11 13
15 12 0.1026 14 11/11 13 29 24 11 13 13
16 1 0.0085 13 13/14 14 30 24 9 11 13
17 1 0.0085 13 17/18 13 31 24 10 11 13
18 3 0.0256 14 14/15 12 28 23 10 11 13
19 1 0.0085 15 10/15 13 29 25 11 13 12
20 5 0.0427 14 10/15 13 29 25 11 13 12
21 11 0.0940 14 17/17 13 31 24 10 11 13
22 1 0.0085 14 16/17 13 31 24 10 11 13
23 1 0.0085 14 10/11 13 29 24 11 13 13
24 1 0.0085 16 14/16 13 31 25 11 11 13
25 1 0.0085 13 17/18 14 32 24 10 11 13
26 2 0.0171 13 17/18 14 31 24 10 11 13
27 2 0.0171 13 17/18 14 31 23 10 11 13
28 1 0.0085 14 17/18 13 30 24 10 11 13
29 2 0.0171 13 15/18 13 30 25 10 11 13
30 1 0.0085 14 10/15 13 29 25 10 13 12
31 1 0.0085 13 17/17 13 30 25 10 11 13
32 1 0.0085 14 17/17 13 29 24 10 11 13
33 1 0.0085 16 14/15 13 32 24 10 11 13
34 1 0.0085 16 15/15 14 33 24 10 11 13
35 1 0.0085 14 14/17 12 28 24 10 11 13
36 2 0.0171 14 14/14 12 28 23 10 11 13
37 1 0.0085 14 17/17 13 31 23 10 11 13
38 1 0.0085 14 11/16 13 30 24 11 13 12
39 2 0.0171 14 14/18 12 28 24 10 11 12
40 1 0.0085 14 11/14 14 30 23 11 13 13
41 1 0.0085 15 14/18 12 28 24 10 11 12
42 1 0.0085 15 10/18 12 29 24 10 11 12
43 1 0.0085 13 16/19 13 30 24 10 11 13
44 1 0.0085 14 14/17 12 26 24 10 11 12
45 1 0.0085 13 15/17 13 30 26 10 11 13
46 1 0.0085 13 15/18 13 29 24 10 11 13
47 1 0.0085 14 17/18 13 31 24 10 11 13
48 1 0.0085 14 11/11 14 30 24 11 13 12
49 1 0.0085 13 15/16 13 30 23 10 11 13
50 1 0.0085 14 11/11 13 29 24 11 14 13
51 1 0.0085 13 15/17 13 30 24 10 11 13
52 1 0.0085 13 16/18 13 29 24 10 11 13
53 1 0.0085 14 14/14 12 28 23 8 11 13
54 1 0.0085 14 11/11 14 30 24 11 13 13
55 1 0.0085 13 16/17 13 30 23 10 11 13
56 1 0.0085 13 16/16 13 30 24 9 11 14
M. Peric
ˇic
´et al. / Forensic Science International 146 (2004) 6164 63
frequent haplotypes (DYS19-DYS385-DYS389I-DYS389II-
DYS390-DYS391-DYS392-DYS393) 14-11/11-13-29-24-
11-13-13 (10.26%), 14-14/17-12-28-24-10-11-12 (9.4%),
13-16/18-13-30-24-10-11-13 (9.4%), and 14-17/17-13-31-
24-10-11-13 (9.4%) had 30, 3, 74, and 1 matches, respec-
tively. Forty six haplotypes were observed in a single copy.
Total haplotype diversity was estimated at 0:9621 0:0079.
Exact test of population differentiation based on haplo-
type frequencies did not reveal signicant difference
between Albanian male population living in Kosovo and
rst-generation Albanian immigrants living in Italy [11].
Exact test by locus showed signicant differences at loci
DYS19 (P¼0:002) and DYS385 (P¼0:000).
This study is reported by following the guidelines for
publication of population data requested by the journal [12].
Acknowledgements
This work was supported by the Ministry of Science and
Technology of the Republic of Croatia grant to P.R. (project
title: Population Structure of CroatiaAnthropogenetic
Approach, no. 0196005).
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Table 2 (Continued )
57 1 0.0085 13 17/20 13 30 24 10 11 13
58 1 0.0085 14 11/11 13 30 24 11 13 13
59 1 0.0085 16 11/14 13 30 26 10 11 13
60 1 0.0085 16 11/14 13 31 26 10 11 13
LDV 0.580 0.916 0.470 0.764 0.458 0.414 0.380 0.389
n: number of individuals and LDV: locus diversity values.
64 M. Peric
ˇic
´et al. / Forensic Science International 146 (2004) 6164
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A multicenter study has been carried out to characterize 13 polymorphic short tandem repeat (STR) systems located on the male specific part of the human Y chromosome (DYS19, DYS288, DYS385, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, YCAI, YCAII, YCAIII, DXYS156Y). Amplification parameters and electrophoresis protocols including multiplex approaches were compiled. The typing of non-recombining Y loci with uniparental inheritance requires special attention to population substructuring due to prevalent male lineages. To assess the extent of these subheterogeneities up to 3825 unrelated males were typed in up to 48 population samples for the respective loci. A consistent repeat based nomenclature for most of the loci has been introduced. Moreover we have estimated the average mutation rate for DYS19 in 626 confirmed father-son pairs as 3.2 × 10–3 (95% confidence interval limits of 0.00041–0.00677), a value which can also be expected for other Y-STR loci with similar repeat structure. Recommendations are given for the forensic application of a basic set of 7 STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) for standard Y-haplotyping in forensic and paternity casework. We recommend further the inclusion of the highly polymorphic bilocal Y-STRs DYS385, YCAII, YCAIII for a nearly complete individualisation of almost any given unrelated male individual. Together, these results suggest that Y-STR loci are useful markers to identify males and male lineages in forensic practice.
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Seven Y-chromosome STRs were investigated in a male population sample from the Modena area by means of one quadruplex reaction (systems DYS19, DYS390, DYS391, DYS393), one duplex reaction (systems DYS389-II, DYS392) and two single PCR reactions (DXYS156 and DYS389-I/II). In 100 males, 71 different haplotypes could be observed, 57 of which were seen only once. The haplotype diversity/discrimination index is 0.97. The resulting database could be used for routine forensic application like paternity testing and stain investigation.
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Y-chromosomal STR loci are of increasing interest in paternity testing, forensic casework, anthropological and evolutionary studies. We participate in a cooperation to establish an international reference database of at least nine Y-chromosomal STR loci to be used for biostatistic calculations. We present frequency distributions of nine Y-chromosome specific STR polymorphisms and frequencies of compound haplotypes in two populations. We chose the loci DYS393, DYS19, DYS392, DYS385I, DYS385II, DYS390, DYS391 and DYS389I and II. Blood samples were taken from 136 unrelated male individuals from Cologne (Germany) and of 63 unrelated males from Chengdu (Sichuan Province, PR China). DNA was extracted by a salting out procedure or chelex extraction. PCR was carried out in two multiplex reactions. Fragment analysis was conducted on an ALF- or ALF-express sequencer. Frequency profiles of the German men showed no significant differences compared to most European populations. Mean exclusion chances were between 0.44 for DYS393 and 0.94 for DYS385. Haplotype diversity for the complete haplotype was 86.66% in Germans and 98% in Chinese. The Chinese men showed for all analysed loci except for DYS389I and DYS390 remarkably different allele distributions.