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