Forensic Science International: Genetics 4 (2010) e101–e103

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Forensic Science International: Genetics

journal homepage: www.elsevier.com/locate/fsig

Announcement of population data

Icelandic population data for the STR loci in the AMPFlSTR1SGM PlusTM system
and the PowerPlex1 Y-system
Rune Andreassen a,*, Luı́sa Pereira c,d, Berit M. Dupuy b, Bente Mevaag b
a
Faculty of Health Sciences, Oslo University College, Norway, Norway
b
Institute of Forensic Medicine, University of Oslo, Norway, Norway
c
IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto), Portugal
d
Faculdade de Medicina da Universidade do Porto, Portugal

A R T I C L E I N F O A B S T R A C T

Article history: We present allele frequencies and statistical parameters of forensic interest for 10 autosomal STR loci
Received 15 May 2009 and 12 Y-STR loci obtained from an Icelandic population sample. The testing of the STR loci in the
Received in revised form 24 July 2009 AmpFlSTR1SGM PlusTM kit in 151 unrelated individuals showed heterozygosity frequencies ranging
Accepted 20 August 2009
from 0.775 (vWA) to 0.874 (D2S1338). A significant deviation from Hardy–Weinberg equilibrium was
observed in vWA, but it was not statistically significant after application of Bonferroni correction. The
Keywords: exact test of differentiation analysis revealed one significant departure from differentiation out of 45
Short tandem repeats
pairwise comparisons, but the departure was not significant after Bonferroni’s correction. Seventy-five
Population data
Y-chromosome
different haplotypes were observed in the 100 male samples analysed for the twelve Y-STRs included in
SGM PlusTM the PowerPlex1 Y-system. No haplotype was observed more than four times. Pairwise comparisons for
Iceland genetic distances based on the minimal haplotype diversity showed Iceland to be closer to Norway and
Denmark than to Sweden, UK, Ireland and Greenland. As expected, the higher percentage of variation
was observed within than among populations (90.40% versus 9.60%, respectively, for RST).
ß 2009 Elsevier Ireland Ltd. All rights reserved.

1. Population reaction conditions as described by the manufacturers. The

Samples were obtained from unrelated healthy individuals
living on Iceland after informed consent and made anonymous
before they were processed. One hundred and fifty-one unrelated
individuals were analyzed in the autosomal STRs and 100 males
were analyzed in the Y-STRs.
2. DNA extraction and quantification
Genomic DNA was isolated from either blood samples or saliva
samples using Chelex extraction procedure [1]. The extracted DNA
was quantified using the Quantiblot Human DNA Quantification Kit
(Applied Biosystems, NJ, USA) following manufacturer’s instructions.
3. PCR amplification
Samples were PCR amplified using 0.5–2 ng target DNA. The
AMPFlSTR1SGM PlusTM kit and the PowerPlex1 Y-kit were applied
for amplification of autosomal STRs and Y-STRs, respectively, using
* Corresponding author at: Faculty of Health Sciences, Oslo University College,
Norway, Dept of Health, Pilestredet 50, Oslo, Norway. Tel.: +47 93053273.
E-mail address: rune.andreassen@hf.hio.no (R. Andreassen).
samples were amplified in a GeneAmp PCR System 9700 (Applied
Biosystems, Foster City, USA).
4. Electrophoresis and typing
The amplified products were detected with the ABI PRISM 3100
Genetic Analyzer (Applied Biosystems, Foster City, CA). The results
were analyzed using GeneScan and Genotyper version 3.7 (Applied
Biosystems, Foster City, CA). Alleles were designated using the allelic
ladders and genotyper macros supplied with the kits. Nomenclature
according to the reccomendation by the DNA commission of the
International Society for Forensic Genetics [2] was used for Y-STR loci.
5. Quality control
GEDNAP proficiency test for forensic DNA typing.
6. Analysis of data
GDA software v1.0 [3] was used for statistical testing of
autosomal STR loci. For the calculations of the forensic efficiency
parameters, the PowerStats v1.2 spreadsheet was used [4]. The
level of significance was 0.05 for all statistical tests. Calculations of
population pairwise FST values for autosomal STRs and Y-STRs and

1872-4973/$ – see front matter ß 2009 Elsevier Ireland Ltd. All rights reserved.
doi:10.1016/j.fsigen.2009.08.011
e102 R. Andreassen et al. / Forensic Science International: Genetics 4 (2010) e101–e103

Table 1
Allele frequencies for AmpFlSTR1SGM plus loci in an Icelandic population sample of 151 individuals.

Allele D3S1358 vWA D16S539 D2S1338 D8S1179 D21S11 D18S51 D19S433 TH01 FGA

6 – – – – – – – – 0.288 –
7 – – – – – – – – 0.246 –
8 – – 0.003 – 0.013 – – – 0.113 –
9 – – 0.142 – 0.023 – – – 0.117 –
9.3 – – – – – – – – 0.217 –
10 – – 0.030 – 0.070 – 0.007 – 0.021 –
11 0.007 – 0.344 – 0.073 – 0.007 – – –
12 – – 0.245 – 0.149 – 0.166 0.055 – –
13 0.003 – 0.195 – 0.268 – 0.136 0.243 – –
13.2 – – – – – – – 0.022 – –
14 0.149 0.146 0.036 – 0.275 – 0.113 0.379 – –
14.2 – – – – – – – 0.007 – –
15 0.288 0.060 0.003 – 0.113 – 0.142 0.173 – –
15.2 – – – – – – – 0.026 – –
16 0.225 0.182 – 0.036 0.017 – 0.109 0.063 – –
16.2 – – – – – – – 0.015 – –
17 0.166 0.301 – 0.199 – – 0.106 0.011 – –
18 0.156 0.212 – 0.076 – – 0.119 0.004 – 0.024
18.2 – – – – – – – 0.004 – –
19 0.007 0.089 – 0.096 – – 0.050 – – 0.066
20 – 0.010 – 0.172 – – 0.033 – – 0.176
21 – – – 0.026 – – 0.010 – – 0.110
21.2 – – – – – – – – – –
22 – – – 0.033 – – – – – 0.179
22.2 – – – – – – – – – –
23 – – – 0.109 – – 0.003 – – 0.159
23.2 – – – – – – – – – 0.003
24 – – – 0.116 – – – – – 0.193
25 – – – 0.116 – – – – – 0.069
25.2 – – – – – – – – – –
26 – – – 0.020 – – – – – 0.021
27 – – – – – 0.032 – – – –
28 – – – – – 0.184 – – – –
29 – – – – – 0.260 – – – –
30 – – – – – 0.288 – – – –
30.2 – – – – – 0.016 – – – –
31 – – – – – 0.088 – – – –
31.2 – – – – – 0.040 – – – –
32 – – – – – 0.008 – – – –
32.2 – – – – – 0.048 – – – –
33.2 – – – – – 0.024 – – – –
34.2 – – – – – 0.012 – – – –

Obs. Ha 0.814 0.775 0.821 0.874 0.841 0.848 0.834 0.828 0.828 0.854
Exp. Hb 0.795 0.800 0.763 0.876 0.809 0.830 0.883 0.780 0.778 0.860
Pc 0.885 0.008 0.051 0.178 0.748 0.176 0.106 0.525 0.250 0.168
PDd 0.921 0.922 0.888 0.965 0.927 0.922 0.969 0.892 0.908 0.953
PEe 0.626 0.553 0.639 0.743 0.677 0.675 0.664 0.616 0.679 0.691
a
Gene diversity in the Y-STR loci.
b
DYS 385 haplotype diversity.
c
P-value Hardy-Weinberg equilibrium exact test based on 3200 shufflings.
d
Power of Discrimination.
e
Power of Exclusion.

RST and AMOVA (Analysis of Molecular Variance) for Y-STRs were
performed with Arlequin v3.0 software [5] by using data published
previously: for autosomal STRs, comparisons were performed with
Norway [6], Sweden [7] and UK [8]; for Y-STRs, comparisons were
limited to the ‘‘minimal haplotype’’ (DYS19, DYS389I, DYS389II,
DYS390, DYS391, DYS392 and DYS393) from Norway [9], Sweden
[10], Denmark [11], UK [12], Ireland [13] and Greenland [14]. RST
distances take into account not only how many loci are different
but also how different each one is.
7. Results
Table 1 shows the allele frequencies and statistical forensic
parameters for the 10 autosomal STR loci included in the
AmpFlSTR1SGM PlusTM kit in 151 unrelated individuals from
Iceland. Table 2 shows the haplotype frequency of loci DYS385 and
the allele frequencies of the other 10 Y-STRs included in the
PowerPlex1 Y-system. The Y-haplotypes in 100 males for twelve
Y-STR loci (Table 3), the genetic distances between the studied
sample and neighbouring populations (Tables 4–6) and the
complete genotype set from typing 151 individuals in autosomal
STRs (Table 7) are available as e-component.
8. Other remarks
The observed heterozygosity frequencies in the autosomal STR
loci ranged from 0.775 (vWA) to 0.874 (D2S1338). A significant
deviation from Hardy–Weinberg equilibrium was observed in
vWA applying a 0.05 significance level. If applying Bonferroni
corrected significance level (p = 0.001) the departure is not
significant. Forty-five pairwise comparisons using the exact test
of differentiation analysis revealed a significant departure from
differentiation for vWA/D16S539 (p = 0.027). However, if applying
a Bonferroni corrected significance level the departure is not
significant. When comparing Iceland with neighbour populations
(Table 4, e-component), FST distances were statistically significant
 R. Andreassen et al. / Forensic Science International: Genetics 4 (2010) e101–e103 e103

Table 2
Allele and haplotype (DYS385 loci) frequencies for the PowerPlex1 Y–system loci in a sample of 100 males from Iceland.

Allele DYS391 DYS389I DYS439 DYS389II DYS438 DYS437 DYS19 DYS392 DYS393 DYS390 Haplotype DYS385

9 0.01 – – – 0.03 – – – – – 9–12 0.01

10 0.56 – 0.25 – 0.31 – – – – – 11–13 0.08
11 0.41 – 0.36 – 0.33 – – 0.52 – – 11–14 0.40
12 0.01 0.37 0.32 – 0.33 – – 0.13 – – 11–15 0.06
13 0.01 0.46 0.04 – – – 0.09 0.30 0.90 – 11–16 0.01
14 – 0.15 0.03 – – 0.41 0.56 0.05 0.07 – 12–13 0.01
15 – 0.02 – – – 0.31 0.29 – 0.03 – 12–14 0.02
16 – – – – – 0.28 0.03 – – – 13–14 0.05
17 – – – – – – 0.03 – – – 13–15 0.01
22 – – – – – – – – – 0.12 13–17 0.08
23 – – – – – – – – – 0.39 14–14 0.11
24 – – – – – – – – – 0.25 14–15 0.11
25 – – – – – – – – – 0.23 14–16 0.01
26 – – – – – – – – – 0.01 14–17 0.01
27 – – – 0.02 – – – – – – 15–15 0.01
28 – – – 0.31 – – – – – – 15–16 0.02
29 – – – 0.36 – – – – – – – –
30 – – – 0.15 – – – – – – – –
31 – – – 0.09 – – – – – – – –
32 – – – 0.07 – – – – – – – –
GDa 0.523 0.635 0.710 0.746 0.692 0.611 0.598 0.627 0.186 0.725 HDb 0.803
a
Gene diversity in the Y–STR loci.
b
DYS 385 haplotype diversity.

between Iceland-UK for FGA and between Iceland-Sweden and References

Iceland-Norway for TH01, but only this last one remained
significant after Bonferroni’s correction.
A total of 75 different Y-haplotypes were observed in the 100
males typed in the PowerPlex1 Y-system (overall Y-haplotype
diversity of 0.993). Two haplotypes were observed four times, five
haplotypes were observed three times, nine haplotypes were
observed two times, while 59 haplotypes were observed only once.
Locus diversity ranged from 0.186 (DYS393) to 0.746 (DYS389II)
while loci DYS385 showed a diversity of 0.803. When comparing
Icelandic diversity for the minimal haplotype with other neighbour
populations (Tables 5 and 6, e-component), all pairwise distances
were significant except between: Iceland-Norway, Iceland-Denmark
and Denmark-Sweden, when analyzing FST, enlarging to Iceland-
Sweden and Norway-Denmark when analyzing RST. The pairwise
comparisons for genetic distances based on the minimal haplotype
diversity showed Iceland to be more similar to the Scandinavian
populations than to the other populations, and closest genetic
distance was observed between Iceland and Norway. These findings
are in agreement with other studies suggesting that about 75% of the
patrilineal ancestry of Icelanders originated in Scandinavia [15,16].
The Analysis of Molecular Variance (AMOVA) shows a value of
94.92% variation within populations versus 5.08% among popula-
tions for FST, and 90.40% versus 9.60%, respectively for RST.
This paper follows the guidelines for publication of population
data requested by the journal [17].
Acknowledgements
IPATIMUP is supported by Programa Operacional Ciência,
Tecnologia e Inovação (POCTI) e Quadro Comunitário de Apoio III.
Appendix A. Supplementary data
Supplementary data associated with this article can be found, in
the online version, at doi:10.1016/j.fsigen.2009.08.011.
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