Genetic profiling of Bolivian population using 15 STR markers of forensic importance

Genetic profiling of Bolivian population using 15 STR markers of forensic importance

Legal Medicine 11 (2009) 149–151 Contents lists available at ScienceDirect Legal Medicine journal homepage: www.elsevier.com/locate/legalmed Announ...

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Legal Medicine 11 (2009) 149–151

Contents lists available at ScienceDirect

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

Announcement of Population Data

Genetic profiling of Bolivian population using 15 STR markers of forensic importance Laura Natalia Riccardi a, German Melean b, Ana Rada b, Noemi Tirado b, Maurizio Genuardi a, Ugo Ricci a,* a b

Medical Genetics Unit, Meyer Children’s University Hospital, Florence, Italy Genetics Institute Medical School Universidad Mayor de San Andres La Paz, Bolivia

a r t i c l e

i n f o

Article history: Received 21 July 2008 Received in revised form 14 November 2008 Accepted 29 December 2008 Available online 13 March 2009 Keywords: Forensic science DNA typing Short Tandem Repeats (STR) Population genetics Bolivia

a b s t r a c t Allele frequencies for the 13 CODIS markers plus D2S1358 and D19S433 loci were estimated in a sample of 148 unrelated individuals from Bolivia and parameters of forensic interest were calculated. Further, the STR data were analyzed using a distance-based method to assess the genetic relationships of this population with other ones living in Argentina, Brazil, Costa Rica, Mexico, Peru, Venezuela and three autochthonous populations living in the Beni Department of Bolivia (Quechua, Aymara and Beni population). Ó 2008 Elsevier Ireland Ltd. All rights reserved.

Samples: Whole blood samples were obtained from 148 unrelated individuals from La Paz (108), Chuquisaca (25), Tarija (8), Beni (2), Potosi (2), Oruro (1), Cochabamba (1), Santa Cruz (1) who gave their consent to participate in this study. Extraction: DNA was extracted from peripheral blood with WizardÒ Genomic DNA Purification (Promega, Madison, WI USA) according to manufacturer’s recommendations. Quantification was performed with spectrophotometer or with QuantifilerTM Human DNA Quantification Kit (Applied Biosystems, Foster City, USA). PCR: Samples were amplified starting from 0.5 to 1.25 ng of template DNA as suggested in the AmpFlSTRÒ IdentifilerTM Kit (Applied Biosystems) user’s manual. Methods: PCR products were analysed by capillary electrophoresis carried out with the ABI Prism 310 Genetic Analyzer (Applied Biosystems) using sequenced ladders and the standard DNA 9947A as reference sample. For the automated alleles sizing GenotyperÒ Software v.3.7 (Applied Biosystems) was used and alleles were named according to the ISFG recommendations [1]. Quality control: Proficiency testing of the GeFI working group [2]. Results: See Tables 1 and 2. Data analysis: Gene frequencies, expected and observed heterozygosity (He, Ho), Hardy–Weinberg equilibrium test (HWE), polymorphism information content (PIC), power of discrimination (PD), power of exclusion (PE) and exact test of population differentiation were calculated using GENEPOP [3], Arlequin ver. 2000 [4] and a * Corresponding author. E-mail address: [email protected] (U. Ricci). 1344-6223/$ - see front matter Ó 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.legalmed.2008.12.005

home made program [5]. POPTREE program [6] was employed to estimate genetic distances and phylogram construction using allele frequencies as input data. To modify the phylogram layout TreeView program [7] was used. Access to data: Available upon request from [email protected]. Other remarks: This is the first study in which population data for CODIS loci of Bolivians were reported. Table 1 shows allele frequency data, FGA locus results to be the most informative marker (PD = 0.962). For all 15 STR loci, the combined power of exclusion is 0.9999938 and the combined power of discrimination is 0.9999999999999990. No deviations from Hardy–Weinberg equilibrium were observed in this population, except for TH01, D21S11 and D19S433 loci. However, employing the Bonferroni correction for the number of loci analysed (0.05/15 = 0.0033), no departure from Hardy–Weinberg equilibrium expectation based on the exact test was detected. Comparison involved six other populations from South America: Argentina (Buenos Aires) [8], Brazil (Northeast region, Paraiba State) [9], Costa Rica [10], Mexico (Central region) [11], Peru (Lima, Huancayo, Iquitos, Piura and Huaraz) [12] and Venezuela (Caracas) [13]; we performed a further comparison of our population data with those of the so-called Beni department populations, in a geographic area that extends from the Andean habitat to the Iowland Llanos de Moxos savannah, different small groups, sometimes of different ethnic origin, coexist [14]. In terms of genetic distance, the Bolivian population is closer to the Costa Rica group (0.042), followed by Mexico (0.090) and Venezuela (0.122); Peru (0.140), Argentina (0.148) and Brazil (0.362) populations result clearly distinct (Fig. 1). For what concerns native pop-

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Table 1 Allele frequencies and statistics parameters for 15 STR loci in a Bolivian population. Loci

D5S818

D7S820

D13S317

TPOX

D16S359

D3S1358

FGA

CSF1PO

D8S1179

TH01

VWA

D18S51

D21S11

D2S1338

D19S433

Alleles 6 7 8 9 9.3 10 11 11.2 12 12.2 13 13.2 14 14.2 15 15.2 16 17 17.2 18 19 20 21 22 23 24 25 26 27 28 29 30 30.2 31 31.2 32 32.2 33.2 34.2 Tot

– 0.139 – 0.084 – 0.034 0.446 – 0.230 – 0.064 – 0.003 – – – – – – – – – – – – – – – – – – – – – – – – – –

– 0.007 0.030 0.078 – 0.240 0.361 – 0.240 – 0.034 – 0.010 – – – – – – – – – – – – – – – – – – – – – – – – – –

– – 0.020 0.332 – 0.091 0.169 – 0.169 – 0.111 – 0.105 – 0.003 – – – – – – – – – – – – – – – – – – – – – – – –

– 0.003 0.618 0.010 – 0.017 0.264 – 0.084 – 0.003 – – – – – – – – – – – – – – – – – – – – – – – – – – – –

– – – 0.275 – 0.277 0.172 – 0.189 – 0.084 – 0.003 – – – – – – – – – – – – – – – – – – – – – – – – – –

– – – – – – – – – – 0.010 – 0.010 – 0.520 – 0.297 0.105 – 0.051 0.007 – – – – – – – – – – – – – – – – – –

– – – – – – – – – – – – – – – – – – – 0.003 0.118 0.095 0.088 0.088 0.071 0.149 0.225 0.139 0.024 – – – – – – – – – –

– – 0.010 0.003 – 0.189 0.307 – 0.437 – 0.044 – 0.010 – – – – – – – – – – – – – – – – – – – – – – – – – –

– – 0.003 0.007 – 0.052 0.030 – 0.118 – 0.284 – 0.264 – 0.209 – 0.027 0.003 – 0.003 – – – – – – – – – – – – – – – – – – –

0.297 0.454 0.017 0.020 0.209 0.003 – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – –

– – – – – – – – – – 0.003 – 0.020 – 0.061 – 0.359 0.409 – 0.098 0.047 0.003 – – – – – – – – – – – – – – – – –

– – 0.003 – – 0.007 0.003 – 0.128 – 0.167 – 0.216 – 0.169 – 0.078 0.142 – 0.044 0.020 0.017 – – 0.003 – – – – – – 0.003 – – – – – – –

– – – – – – – – – – – 0.007 – – – – – – – – – – – – – – – 0.003 0.003 0.036 0.220 0.203 0.003 0.051 0.193 0.010 0.223 0.041 0.007

– – – – – – – – – – – – – – – – 0.007 0.169 – 0.074 0.270 0.162 0.030 0.062 0.179 0.037 0.010 – – – – – – – – – – – –

– – – – – – – 0.003 0.020 0.003 0.139 0.156 0.365 0.030 0.176 0.064 0.034 0.003 0.007 – – – – – – – – – – – – – – – – – – – –

He Ho P PIC PD PE

0.718 0.709 0.140 0.681 0.879 0.496

0.747 0.716 0.195 0.707 0.890 0.520

0.802 0.824 0.549 0.776 0.931 0.616

0.541 0.500 0.703 0.481 0.733 0.292

0.776 0.743 0.911 0.740 0.914 0.557

0.627 0.628 0.615 0.570 0.797 0.374

0.864 0.851 0.672 0.850 0.962 0.726

0.678 0.648 0.989 0.621 0.845 0.416

0.788 0.804 0.496 0.757 0.919 0.583

0.663 0.621 0.004* 0.601 0.809 0.391

0.689 0.682 0.191 0.637 0.847 0.442

0.853 0.831 0.425 0.835 0.955 0.701

0.819 0.797 0.005* 0.794 0.933 0.633

0.829 0.790 0.651 0.807 0.948 0.660

0.787 0.797 0.013* 0.761 0.918 0.597

He, expected heterozigosity; Ho, observed heterozigosity; P, probability value of exact test for Hardy–Weinberg equilibrium; PIC, polymorphism information content; PD, power of discrimination; PE, power of exclusion. * P > 0.05.

Table 2 Values obtained from population differentiation test between Argentinians (ARG), Bolivians (BOL), Brasilians (BRA), Costa Ricans (COS), Mexicans (MES), Peruvians (PER), Venezuelans (VEN), Bolivians from Beni Department (BENI), Quechua (QUE) and Aymara (AYM). Locus BOL BOL BOL BOL BOL BOL BOL BOL BOL

vs. vs. vs. vs. vs. vs. vs. vs. vs.

ARG BRA COS MES PER VEN BENI QUE AYM

D5S818

D7S820

D13S317

TPOX

D16S359

D3S1358

FGA

CSF1PO

D8S1179

TH01

VWA

D18S51

D21S11

D2S1338

D19S433

0.00000 – 0.00000 0.03170 0.80675 0.00175 – – –

0.02255 0.00000 0.01140 0.04375 0.56710 0.00715 – – –

0.00000 0.00000 0.00000 0.00015 0.64760 0.00000 – – –

0.00029 0.00000 0.00008 0.02423 0.09087 0.00004 0.00000 0.30588 0.15274

0.00000 0.00000 0.00000 0.00000 0.70405 0.00000 – – –

0.00040 – 0.00000 0.00000 0.82520 0.00000 – – –

0.00000 – 0.26100 0.02185 0.90055 0.16825 – – –

0.09245 0.06055 0.15830 0.32085 0.46965 0.31010 0.08690 0.90810 0.76605

0.25530 0.79530 0.12255 0.00000 0.00000 0.08245 – – –

0.00000 0.00000 0.00000 0.00009 0.07580 0.00000 0.00000 0.00000 0.00000

0.00000 0.00000 0.00000 0.00000 0.43931 0.00000 0.00000 0.06366 0.84065

0.37305 0.12085 0.04600 0.83000 0.99965 0.39980 – – –

0.00655 0.00000 0.00045 0.06215 0.00000 0.00000 – – –

– – 0.00000 0.17845 – 0.00000 – – –

– – 0.00000 0.01975 – 0.00000 – – –

ulations Aymara (0.739), Quechua (0.749) and Beni (0.761), it has to be highlighted the huge genetic distance between them and Bolivians.

Our results are consistent with anthropological origins of American populations. We confirmed that Brazilians are genetically distant from the other studied populations, likely due to Portuguese

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Fig. 1. The figure shows the phylogram of genetic distances of the studied populations. It has been constructed using the POPTREE program.

colonization and a strong effect of immigration of black Africans and later of Europeans. A similar phenomenon occurred in Venezuela but here the colonists were Spanish. In Argentina the settlers, mostly Spanish and Europeans, didn’t mixture themselves with native Americans and avoided the so-called ‘‘mestizaje”. Geographically and historically, genetic distances found in this study between Bolivians and Mexicans, Costa Ricans, Peruvians, are unexpected. Similarity between Bolivians, Mexicans and Costa Ricans may be explained by a sampling effect or differences in admixture components. Peruvians were expected to be closer to Bolivians, so the genetic distance observed here could result from a different sampling since Peruvian samples were collected from people living in seaside cities where many black Africans migrated (in Bolivia black Africans represent less than 1% of the population). Significant differences were observed with Beni Department inhabitants for the data available for HUMTH01, HUMVWA31A, HUMCSF1PO and HUMTPOX loci. This is to be explained throwing a glance at the ethnic origin of these communities, Aymara and Quechua exhibit the same ancestral origin which are of Andean populations which colonized Beni area while Beni population, which is a heterogeneous group composed by individuals belonging to Mojeño, Movima, Yuracare and Mosetenean, is more distant due to its Amazonian’s extraction. Thus, due to the great heterogeneity within Bolivian population it would be important to establish regional databases in the country. In conclusion, a Bolivian population database for the 15 STR loci studied has been established, it has been shown to be a useful tool for personal identification.

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