Y-chromosome haplotype database in Venezuelan central region and its comparison with other Venezuelan populations

Y-chromosome haplotype database in Venezuelan central region and its comparison with other Venezuelan populations

Forensic Science International: Genetics Supplement Series 2 (2009) 407–408 Contents lists available at ScienceDirect Forensic Science International...

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Forensic Science International: Genetics Supplement Series 2 (2009) 407–408

Contents lists available at ScienceDirect

Forensic Science International: Genetics Supplement Series journal homepage: www.elsevier.com/locate/FSIGSS

Research article

Y-chromosome haplotype database in Venezuelan central region and its comparison with other Venezuelan populations Maritza Alvarez a,*, Claudia Marrero a, Airene Dictamen a, Maria Figuera a, Miguel Marrero a, Lisbeth Borjas b, Raul Ferreira a a b

Laboratorio Genomik, Maracay, Bolivarian Republic of Venezuela Laboratorio de Gene´tica, Universidad del Zulia, Maracaibo, Bolivarian Republic of Venezuela

A R T I C L E I N F O

A B S T R A C T

Article history: Received 13 August 2009 Accepted 14 August 2009

One hundred and fifteen unrelated male individuals were sampled and Y-STR genotypes were determined using the PowerPlexY-System (Promega Corp.) and the ABIPRISM 3130 Genetic Analyzer. Allele frequencies and gene diversity for each of the 11 markers analyzed are shown. One hundred and seven different haplotypes were found. Five of them were present in more than one individual, and 101 were not previously found in Caracas and Maracaibo populations [1]. When genetic distance between Central Region and Caracas was estimated, non-significant difference was found. Likewise, differences were not found in markers either. However, when Central Region and Maracaibo were compared, significant differences were found in both genetic distance and DYS385 and DYS438 allele distributions. ß 2009 Elsevier Ireland Ltd. All rights reserved.

Keywords: Y-choromosome STR markers Haplotypes Forensic Population genetics

1. Introduction

3. Results and discussion

Although haplotypes frequencies have been previously estimate in Venezuelan populations (Caracas and Maracaibo) [1] genetic homogeneity population have to be confirmed before considering them as a Data Base for others Venezuelan populations. We have characterized alleles for 11 Y-chromosome STR markers (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, and DYS439) in Central Region of Venezuela (Carabobo, Cojedes and Aragua States) in order to conform a Data Base for this Region and to compare this one with those previously reported in Venezuela.

Allele frequencies and gene diversity for these 11 Y-STR markers are shown in Table 1. AMOVA locus by locus comparison of markers between Central Region and Caracas showed no significant differences (p > 0.05). However, significant difference was revealed for DYS385 (p = 0.005) and DYS438 (p = 0.027) when comparing Central Region and Maracaibo. One hundred and seven (107) different haplotypes were detected in Central Region of Venezuela (full list available at http://www.labgenomik.com), being only 5 of them carried by more than one individual. Central Region shared 5 and 3 haplotypes with Caracas and Maracaibo, respectively, and only 2 haplotypes are present in all these three populations (Table 2). This set of combined markers presents an haplotype diversity value of 0.982, which means it is highly discriminating in Central Region, as well as in Caracas and Maracaibo populations [1]. genetic distance (pairwise Rst Slatkin’s distance) between Central Region and Caracas was not significative (p = 0.829), but difference was significant between Central Region and Maracaibo (p = 0.018). When a ‘‘chimerical’’ population was constructed joining haplotypes from Central Region and Caracas, Genetic distances between this one and both individual populations was no significant. However, comparison of this ‘‘chimerical’’ population with Maracaibo also has shown a significant difference (p = 0.009).

2. Materials and methods DNA from blood samples of 115 unrelated males living in Central Region of Venezuela were extracted and amplified using PowerPlexY-System (Promega Corp.) and analyzed with an ABIPRISM 3130 Genetic Analyzer, according to manufactures’ recommendations. Allele frequencies, gene and haplotype diversity, and genetic distances among populations were calculated using software ARLEQUIN 3.11 [2].

* Corresponding author. E-mail address: [email protected] (M. Alvarez). 1875-1768/$ – see front matter ß 2009 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.fsigss.2009.08.100

M. Alvarez et al. / Forensic Science International: Genetics Supplement Series 2 (2009) 407–408

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Table 1 Allele frequencies of Y-STR markers in Central Region of Venezuela (115 alleles). Allele 6 8 9 10 11 12 13 14 15 16 17 21 22 23 24 25 26 27 28 29 30 31 32 33 GD

DYS19

DYS389I

DYS389II

DYS390

DYS391

DYS392

DYS393

DYS437

DYS438

DYS439

0.009 0.078 0.522 0.374 0.017

0.009 0.174 0.564 0.226 0.027

0.183 0.565 0.157 0.078 0.017

0.009 0.044 0.391 0.052 0.426 0.061 0.017

0.130 0.713 0.148 0.009

0.662

0.457

0.009 0.009 0.087 0.356 0.400 0.113 0.026

0.061 0.330 0.157 0.452 0.009 0.496 0.356 0.130 0.009

0.078 0.096 0.235 0.452 0.130 0.009 0.113 0.417 0.304 0.130 0.027 0.009 0.622

0.604

0.709

0.714

0.587

0.615

0.664

0.698

DYS385 Genot

Frequency

Genot

Frequency

10–14 11–11 11–12 11–13 11–14 11–15 11–17 11–18 12–12 12–14 12–15 12–16 13–13 13–14 13–15 13–16 13–17

0.017 0.009 0.017 0.017 0.252 0.096 0.017 0.009 0.009 0.035 0.009 0.009 0.017 0.078 0.061 0.017 0.044

13–18 14–14 14–15 14–16 15–15 15–16 15–17 15–18 15–19 15–20 16–16 16–17 16–18 17–17 17–18 17–19 18–18

0.009 0.035 0.027 0.035 0.017 0.017 0.009 0.017 0.009 0.009 0.035 0.017 0.009 0.017 0.009 0.009 0.009

0.914 GD: Gene diversity. Table 2 Y-chromosome haplotypes shared by Central Region with at least other Venezuelan population. Code in Central Region

Hp015 Hp035 Hp047 Hp049 Hp058 Hp069 a b

Marker

No. individual who carry this haplotype

DYS 19

DYS 389I

DYS 389II

DYS 390

DYS 391

DYS 392

DYS 393

DYS 385

DYS 437

DYS 438

DYS 439

RC

Ca

13 14 14 14 14 14

14 13 13 13 13 14

30 29 29 29 30 30

24 23 24 24 23 24

9 12 11 11 10 11

11 13 13 13 11 13

13 13 13 13 12 13

13–14 11–15 11–14 11–15 13–18 11–14

14 15 15 15 14 14

10 12 12 12 10 12

10 12 12 13 11 11

4 1 3 2 1 1

1 1 1 2 1b

Ma

2 1 4

Code asigned by Borjas et al (2008)

H15 H40 H53 H57 H65 H87

RC: Central Region (this paper); C: Caracas; M: Maracaibo (Borjas et al., 2008). It has been erroneusly asigned a different code in the original paper (H93, L. Borjas, personal communication).

Although these results allow considering genetic homogeneity between Central Region and Caracas, deeper studies have to be developed before considering this criteria. Conflict of interest None.

References [1] L. Borjas, L.P. Bernal, M.A. Chiurillo, et al., Usefulness of 12 Y-STRs for forensic genetics evaluation in two populations from Venezuela, Legal Med. (Tokyo) 10 (2) (2008) 107–112. [2] L. Excoffier, L.G. Laval, S. Schneider, Arlequin ver. 3.0: an integrated software package for population genetics data analysis, Evol. Bioinformatics Online 1 (2005) 47–50.