STR data for the AmpFℓSTR® SGM Plus® loci from two South Asian populations

STR data for the AmpFℓSTR® SGM Plus® loci from two South Asian populations

Legal Medicine 11 (2009) 97–100 Contents lists available at ScienceDirect Legal Medicine journal homepage: www.elsevier.com/locate/legalmed Announc...

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Legal Medicine 11 (2009) 97–100

Contents lists available at ScienceDirect

Legal Medicine journal homepage: www.elsevier.com/locate/legalmed

Announcement of Population Data

STR data for the AmpF‘STRÒ SGM PlusÒ loci from two South Asian populations Dan Clark, Sibte Hadi, Arati Iyengar, Judith Smith, Vandana Garg, William Goodwin * School of Forensic and Investigative Sciences, University of Central Lancashire, Corporation Street, Preston, PR1 2HE, England, UK

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Article history: Received 2 May 2008 Received in revised form 10 July 2008 Accepted 22 July 2008 Available online 12 September 2008 Keywords: Population data Short tandem repeat (STR) AmpF‘STRÒ SGM PlusÒ Allele frequencies

a b s t r a c t Using the Applied Biosystems’ AmpF‘STRÒ SGM PlusÒ PCR amplification kit, we studied the allele frequency distribution of 10 STR loci in two south Asian populations: one from the Gujarat region of India represented by 172 unrelated Gujaratis, now resident in England; and a Pakistani population, represented by 155 unrelated individuals. Gujarat borders southeast Pakistan. There were no significant deviations from Hardy–Weinberg equilibrium in either population after Bonferroni correction. The combined power of discrimination and exclusion for the Indian population were 0.999999999999544 and 0.9999785, respectively; for the Pakistani population, they were 0.999999999999865 and 0.9998975, respectively. FST (or h) between these two populations was estimated as 0.00146. Ó 2008 Elsevier Ireland Ltd. All rights reserved.

Population: Samples were taken from 172 unrelated individuals of Gujarati origin (from the Gujarat region of Western India) living in Preston, England. A further 155 samples collected from Pakistan, comprised of Punjabi (40), Pushtoon (61) and Sindi (54) individuals. Prior to sample collection, written informed consent was obtained. Individuals were grouped according to self-classification of their ancestry. Extraction: DNA was extracted using the QIAampÒ DNA Blood Mini Kit (Qiagen, Hilden, Germany) in accordance with manufacturer’s guidelines. PCR amplification: PCR was performed using the AmpF‘STRÒ SGM PlusÒ PCR amplification kit (Applied Biosystems, Foster City, USA) using the GeneAmpÒ PCR System 2700 (Applied Biosystems) in accordance with manufacturer’s guidelines, but using reduced volume reactions. Typing: PCR products were analysed by capillary gel electrophoresis using the ABI 310 DNA Genetic Analyzer (Applied Biosystems, Foster City, CA, USA) and analysed with both GeneScanÒ version 3.1.2 (Applied Biosystems) and GeneMapperÒ ID version 3.2 (Applied Biosystems). The alleles from all loci reported here were called according to the published nomenclatures and the ISFG guidelines for performing STR analyses [1].

* Corresponding author. Tel.: +44 (0) 1772 894254; fax: +44 (0) 1772 894981. E-mail address: [email protected] (W. Goodwin). 1344-6223/$ - see front matter Ó 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.legalmed.2008.07.004

Analysis of data: Allele frequencies, power of discrimination, power of exclusion, polymorphism information content, match probability and typical paternity index were calculated using the Excel PowerStats spreadsheet (Promega Corporation, Madison, WI, USA) [2]. Expected heterozygosity, observed heterozygosity, an exact test for Hardy–Weinberg equilibrium and pairwise FST were estimated using Arlequin version 3.1 [3] (Tables 1 and 2). Access to data: Available upon request. Please contact [email protected]. Other remarks: The most discriminating marker in the Indian Gujurati and Pakistani populations is D2S1338, with a power of discrimination of 0.967 and 0.968, respectively. Deviation from Hardy–Weinberg equilibrium was observed at two loci, D19S442 and FGA, in the Indian dataset, where p was observed to be <0.05 (Table 1). However, after Bonferroni correction was applied, which based on the number of loci examined tolerated p values to 0.005 (0.05/10 = 0.005), all loci were in equilibrium. An exact test of population differentiation was also conducted between our datasets and allele frequency datasets from Bangladeshi [4], Iraqi [5], Iranian [6] and Malaysian [7] populations (Table 3). Little differentiation can be seen between the Indian and Pakistani populations – an observation supported by the low FST estimate of 0.00146. While there is little differentiation between populations with similar geographic ancestral history, e.g. India, Pakistan and Bangladesh; populations farther towards Persia and Southeast Asia, show greater differentiation, as expected.

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Table 1 Observed Gujarati allele frequencies (n = 172) Allele

D3S1385

vWA

D16S539

D2S1338

D8S1179

D21S11

D18S51

D19S443

TH01

FGA

6 7 7.3 8 8.3 9 9.3 10 10.2 11 12 12.2 13 13.2 14 14.2 15 15.2 16 16.2 17 17.2 18 18.2 19 20 21 21.2 22 22.2 23 23.2 24 24.2 25 26 26.2 27 28 29 29.2 30 30.2 31 31.2 32 32.2 33.2 34.2 35.2

– – – – – – – – – – – – 0.0058 – 0.0785 – 0.2820 – 0.2733 – 0.2529 – 0.1076 – – – – – – – – – – – – – – – – – – – – – – – – – – –

– – – – – – – – – – – – 0.0029 – 0.1337 – 0.0581 – 0.2558 – 0.2820 – 0.1860 – 0.0698 0.0087 0.0029 – – – – – – – – – – – – – – – – – – – – – – –

– – – 0.0552 – 0.1483 – 0.0843 – 0.3459 0.2035 – 0.1424 – 0.0174 – 0.0029 – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – –

– – – – – – – – – – – – – – – – – – 0.0087 – 0.0465 – 0.1919 – 0.1599 0.1221 0.0291 – 0.0959 – 0.1715 – 0.0814 – 0.0669 0.0233 – 0.0029 – – – – – – – – – – – –

– – – 0.0087 – 0.0174 – 0.1686 – 0.0756 0.1308 – 0.2500 – 0.1628 – 0.1308 – 0.0436 – 0.0116 – – – – – – – – – – – – – – – – – – – – – – – – – – – – –

– – – – – – – – – – – – – – – – – – 0.0029 – – – – – – 0.0058 – – – – – – – – – – – 0.0116 0.1279 0.2122 0.0029 0.1890 0.0262 0.0262 0.1308 0.0058 0.1599 0.0843 0.0116 0.0029

– – – – – – – 0.0087 – 0.0087 0.0930 – 0.1279 – 0.2820 – 0.1802 – 0.1192 – 0.0872 – 0.0291 – 0.0291 0.0145 0.0087 – – – 0.0087 – 0.0029 – – – – – – – – – – – – – – – – –

– – – – – 0.0029 – – – – 0.1163 0.0116 0.2907 0.0116 0.2471 0.0436 0.1366 0.0698 0.0349 0.0174 0.0145 – – 0.0029 – – – – – – – – – – – – – – – – – – – – – – – – – –

0.2471 0.1890 – 0.1221 – 0.2762 0.1599 0.0058 – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – –

– – – – – – – – – – – – – – – – – – – – – – 0.0029 – 0.1047 0.0988 0.1076 0.0029 0.1221 0.0233 0.1541 0.0029 0.2006 0.0029 0.1047 0.0523 0.0058 0.0087 0.0058 – – – – – – – – – – –

Ho He PD PE p PIC MP TPI

0.744 0.766 0.905 0.500 0.821 0.725 0.095 1.950

0.855 0.797 0.908 0.704 0.073 0.764 0.092 3.440

0.791 0.788 0.921 0.582 0.878 0.757 0.079 2.390

0.814 0.872 0.967 0.625 0.312 0.856 0.033 2.690

0.872 0.843 0.952 0.739 0.987 0.821 0.048 3.910

0.837 0.834 0.957 0.704 0.966 0.830 0.043 3.440

0.837 0.841 0.954 0.670 0.932 0.821 0.046 3.070

0.756 0.764 0.933 0.625 0.023a 0.790 0.067 2.690

0.703 0.700 0.915 0.571 0.364 0.750 0.085 2.320

0.890 0.868 0.963 0.774 0.024a 0.860 0.037 4.530

Ho, observed heterozygosity; He, expected heterozygosity; PD, power of discrimination; PE, power of exclusion; p, exact test of Hardy–Weinberg; PIC, polymorphic information content; MP, match probability; TPI, typical paternity index. a Bonferroni correction (0.05/10 = 0.005).

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D. Clark et al. / Legal Medicine 11 (2009) 97–100 Table 2 Observed Pakistani allele frequencies (n = 155) Allele

D3S1385

vWA

D16S539

D2S1338

D8S1179

D21S11

D18S51

D19S443

TH01

FGA

6 7 7.3 8 8.3 9 9.3 10 10.2 11 12 12.2 13 13.2 14 14.2 15 15.2 16 16.2 17 17.2 18 18.2 19 20 21 21.2 22 22.2 23 23.2 24 24.2 25 26 26.2 27 28 29 29.2 30 30.2 31 31.2 32 32.2 33.2 34.2 35.2

– – – – – – – – – 0.0032 0.0032 – 0.0032 – 0.0677 – 0.2806 – 0.3161 – 0.1774 – 0.1419 – 0.0065 – – – – – – – – – – – – – – – – – – – – – – – – –

– – – – – – – – – – – – 0.0032 – 0.1258 – 0.0968 – 0.2742 – 0.2323 – 0.1903 – 0.0710 0.0065 – – – – – – – – – – – – – – – – – – – – – – – –

– – – 0.0581 – 0.1581 – 0.0839 – 0.3355 0.2452 – 0.1032 – 0.0129 – – – – – – – – – 0.0032 – – – – – – – – – – – – – – – – – – – – – – – – –

– – – – – – – – – – – – – – – – – – 0.0137 – 0.0753 – 0.1507 – 0.1781 0.1370 0.0342 – 0.0616 – 0.1849 – 0.0788 – 0.0719 0.0137 – – – – – – – – – – – – – –

– – – 0.0097 – 0.0097 – 0.1194 – 0.1097 0.0968 – 0.2032 – 0.1806 – 0.1839 – 0.0742 – 0.0097 – 0.0032 – – – – – – – – – – – – – – – – – – – – – – – – – – –

– – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – 0.0065 0.1516 0.1903 0.0032 0.1581 0.0419 0.0387 0.1516 0.0032 0.1548 0.0935 – 0.0065

– – – – – – – 0.0065 – 0.0161 0.0903 – 0.1129 – 0.2323 – 0.1677 – 0.1419 – 0.1065 – 0.0548 – 0.0419 0.0129 0.0129 – – – 0.0032 – – – – – – – – – – – – – – – – – – –

– – – – – – – – – 0.0065 0.0419 0.0065 0.2548 0.0194 0.2452 0.1097 0.1387 0.0839 0.0323 0.0548 0.0032 0.0032 – – – – – – – – – – – – – – – – – – – – – – – – – – – –

0.2387 0.2161 – 0.1516 0.0032 0.2161 0.1613 0.0129 – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – –

– – – – – – – – – – – – – – – – – – – – – – 0.0097 – 0.0452 0.0742 0.1742 0.0097 0.2032 0.0129 0.1323 – 0.1516 0.0065 0.1258 0.0484 – 0.0032 0.0032 – – – – – – – – – – –

Ho He PD PE p PIC MP TPI

0.735 0.767 0.908 0.485 0.103 0.730 0.092 1.890

0.787 0.807 0.933 0.575 0.888 0.780 0.067 2.350

0.742 0.784 0.922 0.496 0.520 0.750 0.078 1.940

0.772 0.874 0.968 0.549 0.391 0.860 0.032 2.200

0.884 0.854 0.955 0.763 0.684 0.830 0.045 4.310

0.806 0.832 0.960 0.635 0.530 0.840 0.040 2.770

0.826 0.863 0.963 0.648 0.784 0.850 0.037 2.870

0.710 0.742 0.949 0.587 0.268 0.810 0.051 2.420

0.684 0.732 0.930 0.518 0.930 0.770 0.070 2.040

0.826 0.854 0.963 0.660 0.172 0.850 0.037 2.980

Ho, observed heterozygosity; He, expected heterozygosity; PD, power of discrimination; PE, power of exclusion; p, exact test of Hardy–Weinberg; PIC, polymorphic information content; MP, match probability; TPI, typical paternity index.

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Table 3 Exact test of population differentiation (significant differences shown only)

In/Pa In/Ba In/Mal In/Irq In/Irn Pa/Ba Pa/Mal Pa/Irq Pa/Irn

D3S1385

vWA

D16S539

D2S1338

D8S1179

D21S11

D18S51

D19S443

TH01

FGA

ns ns ns 0.02958 0.03479 ns ns 0.00061 0.02132

ns 0.03515 ns 0.00005 0.01973 0.03732 0.00587 0.02461 ns

ns ns 0.00129 ns 0.01965 ns 0.00257 ns ns

ns – 0.01547 0.00000 0.00000 – ns 0.00000 0.00004

ns ns 0.01806 0.00699 ns ns ns ns 0.02944

ns ns 0.00016 ns ns ns 0.00001 0.03225 ns

ns ns ns ns ns ns ns ns ns

0.00017 – 0.00000 0.00430 0.02420 – 0.00003 0.00014 0.04842

ns 0.00497 0.00000 ns ns 0.00197 0.00000 ns ns

0.00256 0.00002 0.00047 ns 0.00352 ns ns ns ns

In, Indian; Pa, Pakistani, Ba, Bangladeshi; Mal, Malaysian; Irq, Iraqi; Irn, Iranian NB. 1,000,000 steps in Markov chain, ‘‘–” indicates no data available, ‘ns’ indicates no significant difference.

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