Abstract
We have encountered a decrease in the number of population studies published in recent years. Allelic frequencies for the new European standard set of loci (D12S391, D1S1656, D2S441, D10S1248, and D22S1045) are not published for many countries. This can lead to bias in statistical evaluation of DNA typing results.
Keywords
1. Introduction
STR (Short Tandem Repeats) analysis has been popular in the field of genetic fingerprinting of individuals since the 1990s. Currently, the number of publications concerning the application of STR loci to forensic DNA profiling goes beyond 3500 references [
[1]
]. The need for reliable STR typing has led to the selection of a “European standard set of loci,” which, in 2009, expanded with five new STR loci (D12S391, D1S1656, D2S441, D10S1248, and D22S1045) added to the already existing European Standard Set (ESS) of seven STRs (TH01, vWA, FGA, D8S1179, D18S51, D21S11, and D3S1358) [[2]
].Since the year 2000, there has been a rapid decrease in the amount of DNA population data published after the Journal of Forensic Science (JFS) [
[3]
] and the Forensic Science International (FSI) [[4]
] reduced the amount of publication space that was allotted to population data. In 2005, JFS decided to stop publishing “For the Record”, a section concerning population STR datasets. There are still journals publishing DNA population data (e.g., FSI: Genetics, International Journal of Legal Medicine, Legal Medicine, FSI, JFS, Croatian Medical Journal, and others) but in very low numbers. Some journals, such as FSI: genetics, increased their minimum requirements for the submission [[5]
]. In spite of recent rapid advances in sequencing technologies and introduction of new markers into forensic genetics field, autosomal STR are still the primary workhorse for the majority of forensic labs throughout Europe and precise allelic frequencies are the cornerstone of this method. Thus, the lack of accessible population studies may heavily impact the statistical evaluation of the DNA analysis.2. Material studied
We performed an in silico retrospective survey of the number of population autosomal STR studies with the “new European standard set of loci” published recently (2009–2015). We used the Google scholar, Scopus, PubMed, and Web of Science online databases [
6
, 7
]. Additionally, the publications were sorted according to the country of origin, the size of the population tested and the number of autosomal STR analyzed.3. Results
Table 1, Table 2, Table 3, Table 4 summarize the population studies with the new ESS loci published recently (2009–2015). The data are sorted by country, scientific journal, population size, and the number of STRs tested (including the new ESS loci).
Table 1Recent population studies on the new ESS STRs in Europe.
| Country | Journal | Authors | Population size | #STRs |
|---|---|---|---|---|
| Austria | FSI: Genetics | Hatzer-Grubwieser, P., et al. (2012) | 219 | 17 |
| Belgium | FSI: Genetics | Dognaux, S., et al. (2012) | 2195 | 6 |
| Croatia | Croat. Med. J. | Curic, G., et al. (2012) | 217 | 15 |
| Croatia | Poster 7th ISABS | Duji Biluši, S., et al. (2011) | 120 | 20 |
| Czech republic | FSI: Genetics S S | Vanek, D., et al. (2011) | 120 | 15 |
| Denmark | FSI: Genetics | Tomas, C., et al. (2014) | 989 | 17 |
| Denmark | FSI: Genetics | Tomas, C., et al. (2015) | 223 | 17 |
| Estonia | Int. J. Legal Med. | Sadam, M., et al. (2014) | 303 | 22 |
| Germany | Int. J. Legal Med. | Poetsch, M., et al. (2011) | 639 | 17 |
| Germany | Int. J. Legal Med. | Poetsch, M., et al. (2011) | 457 | 17 |
| Germany | Int. J. Legal Med. | Poetsch, M., et al. (2013) | 300 | 17 |
| Hungary | FSI: Genetics | Molnár, A., et al. (2011) | 254 | 5 |
| Italy | FSI: Genetics | Barbaro, A., et al. (2012) | 203 | 15 |
| Italy | FSI: Genetics | Berti, A., et al. (2011) | 209 | 17 |
| Italy | Croat. Med. J. | Cortellini, V., et al. (2011) | 95 | 5 |
| Italy | FSI: Genetics | Cortellini, V., et al. (2011) | 210 | 5 |
| Italy | FSI: Genetics | Cortellini, V., et al. (2013) | 174 | 15 |
| Italy | FSI: Genetics | Piglionica, M., et al. (2013) | 150 | 5 |
| Italy | FSI: Genetics S S | Previdere, C., et al. (2011) | 960 | 5 |
| Italy | FSI: Genetics | Turrina, S., et al. (2011) | 266 | 17 |
| Italy | Int. J. Legal Med. | Turrina, S., et al. (2014) | 303 | 24 |
| Italy | Int. J. Legal Med. | Turrina, S., et al. (2014) | 359 | 23 |
| Italy | FSI: Genetics | Verzeletti, A., et al. (2013) | 52 | 24 |
| Macedonia | FSI: Genetics | Jakovski, Z., et al. (2012) | 205 | 17 |
| Netherlands | PLoS ONE | Kraaijenbrink, T., et al. (2014) | 6899 | 21 |
| Netherlands | Int. J. Legal Med. | Westen, A. A., et al. (2012) | 335 | 30 |
| Netherlands | FSI: Genetics | Westen, A. A., et al. (2014) | 2085 | 23 |
| Norway | FSI: Genetics | Dupuy, B. M., et al. (2013) | 9586 | 35 |
| Poland | Int. J. Legal Med. | Jedrzejczyk, M., et al. (2013) | 800 | 15 |
| Poland | Legal Medicine | Parys-Proszek, A., et al. (2010) | 154 | 15 |
| Poland | FSI: Genetics | Soltyszewski, I., et al. (2014) | 2041 | 15 |
| Portugal | FSI: Genetics | Almeida, C., et al. (2015) | 502 | 21 |
| Portugal | FSI: Genetics | Bento, A. M., et al. (2013) | 150 | 15 |
| Portugal | FSI: Genetics | Melo, F., et al. (2014) | 370 | 15 |
| Portugal | FSI: Genetics | Ribeiro, T., et al. (2013) | 452 | 15 |
| Portugal | FSI: Genetics | Souto, L., et al. (2013) | 100 | 24 |
| Romania | Legal Medicine | Anghel, A., et al. (2014) | 336 | 15 |
| Romania | Croat. Med. J. | Stanciu, F., et al. (2013) | 1331 | 15 |
| Slovenia | Croat. Med. J. | Pajnic, I. Z., et al. (2012) | 102 | 23 |
| Slovenia | Croat. Med. J. | Pajnic, I. Z., et al. (2014) | 333 | 15 |
| Spain | FSI: Genetics | Aznar, J. M., et al. (2014) | 895 | 21 |
| Spain | Int. J. Legal Med. | Cardoso, S., et al. (2015) | 155 | 16 |
| Spain | FSI: Genetics | García, O., et al. (2012) | 284 | 21 |
| Spain | FSI: Genetics | Phillips, C., et al. (2011) | 971 | 20 |
| Spain | FSI: Genetics | Phillips, C., et al. (2014) | 941 | 23 |
| Sweden | FSI: Genetics | Albinsson., L., et al. (2011) | 425 | 15 |
| Switzerland | FSI: Genetics S S | Dion, D., et al. (2014) | 1498 | 17 |
| Switzerland | Int. J. Legal Med. | Gehrig, C., et al. (2014) | 668 | 16 |
| Turkey | FSI: Genetics | Bulbul, O., et al. (2014) | 141 | 20 |
| UK | FSI: Genetics | Tucker, V.C., et al. (2011) | 306 | 17 |
| UK | FSI: Genetics | Tucker, V. C., et al. (2012) | 1052 | 16 |
| UK | FSI: Genetics | Welch, L.A., et al. (2012) | 5539 | 17 |
Table 2Recent population studies on new ESS STRs in America.
| Country | Journal | Authors | Population size | #STRs |
|---|---|---|---|---|
| Morocco | FSI: Genetics S S | El Amri, H., et al. (2011) | 180 | 15 |
Table 3Recent population studies on the new ESS STRs in Asia.
| Country | Journal | Authors | Population size | #STRs |
|---|---|---|---|---|
| Bangladesh | Legal Medicine | Rahman, A. S., et al. (2013) | 102 | 11 |
| China | FSI: Genetics | Guoa, F., et al. (2014) | 9948 | 24 |
| China | Mol. Biol. Rep. | Lei, L., et al. (2014) | 183 | 26 |
| China | Adv. Mat. Res. | Li, S.L., et al. (2013) | 196 | 21 |
| China | Gene | Meng, H. T., et al. (2015) | 226 | 20 |
| China | Legal Medicine | Shen, C., et al. (2013) | 106 | 21 |
| China | Mol. Biol. Rep. | Teng, Y., et al. (2012) | 120 | 21 |
| China | Electrophoresis | Yuan, J. Y., et al. (2014) | 114 | 21 |
| China | Mol. Biol. Rep. | Yuan, L., et al. (2012) | 107 | 21 |
| China | Legal Medicine | Yuan, L., et al. (2014) | 154 | 38 |
| China | Fa yi xue za zhi | Zhang, S., et al. (2012) | 484 | 12 |
| China | Plos One | Zhang, S., et al. (2013) | 681 | 17 |
| China | Electrophoresis | Zhang, S., et al. (2013) | 484 | 12 |
| China | FSI: Genetics | Zhang, S., et al. (2015) | 200 | 25 |
| China | Scientific Rep. | Zhang, S., et al. (2015) | 275 | 21 |
| China | Int. J. Legal Med. | Zhu, B., et al. (2011) | 104 | 21 |
| India | FSI: Genetics | Kalpana, D., et al. (2012) | 750 | 15 |
| Japan | FSI: Genetics S S | Hashiayda, M., et al. (2013) | 407 | 24 |
| Japan | Legal Med. | Ozeki, M. and K. Tamaki (2013) | 175 | 37 |
| Philippines | Legal Med. | Rodriguez, J. J. R. B., et al. (2015) | 167 | 23 |
| Republic of Korea | J. Legal Med. | Han Jun Jin et al. (2013) | 411 | 18 |
| Republic of Korea | FSI: Genetics | Park, J. H., et al. (2013) | 526 | 23 |
| Republic of Korea | Genes Genom | Yoo, S. Y., et al. (2014) | 545 | 23 |
Table 4Recent population studies on the new ESS STRs in Africa.
| Country | Journal | Authors | Population size | #STRs |
|---|---|---|---|---|
| Argentina | FSI: Genetics | Vullo, C., et al. (2010) | 506 | 12 |
| Brazil | FSI: Genetics | Almeida Prado Oliveira e Sousa, M. L., et al. (2014) | 1098 | 16 |
| Brazil | Int. J. Legal Med. | Raimann, P.E., et al. (2012) | 835 | 15 |
| Brazil | FSI: Genetics | Rodenbusch, R., et al. (2012) | 353 | 5 |
| Ecuador | FSI: Genetics S S | Gaviria, A., et al. (2013) | 1800 | 22 |
| Peru | FSI: Genetics S S | Iannacone, G.C, et al. (2011) | 203 | 15 |
| USA | Int. J. Legal Med. | Budowle, B., et al. (2011) | 1034 | 15 |
| USA | FSI: Genetics | Hill, C. R., et al. (2011) | 1443 | 17 |
| USA | FSI: Genetics | Hill, C. R., et al. (2013) | 1036 | 29 |
4. Discussion
A majority of DNA identification laboratories possess the allele frequencies of the major population and important sub-populations (e.g., from the surrounding countries, different ethnic groups, immigrant isolated groups). However, problems arise when the laboratory should statistically evaluate the results of the DNA analysis for the person from a population whose population data has not been published and is not accessible by other means (e.g., personal communication or specialized websites such as the STRbase). This can lead to significant decrease of statistical power of commonly used tests and measures, which can result in a false paternity or kinship analysis or misidentification with a subsequent wrongful conviction [
[8]
].5. Conclusion
Allelic frequencies for the new European standard set of loci (D12S391, D1S1656, D2S441, D10S1248, and D22S1045) are not published for many countries. This can lead to improper statistical evaluation of DNA typing results.
Conflict of interest
The authors of this manuscript have no conflict of interest
Funding
The work in this project was supported by the Czech Science Foundation, grant no. 14-36938G.
References
- STRBase: a short tandem repeat DNA database for the human identity testing community.Nucleic Acids Res. 2001; 29: 320-322
- Expansion of the European Standard Set of DNA database loci-the current situation.Profiles DNA. 2009; 12: 6-7
- Journal policy on the publication of DNA population genetic data.J. Forensic Sci. 1999; 44
- Publication of population data of human polymorphisms.Forensic Sci. Int. 2000; 110: 3-5
- New guidelines for the publication of genetic population data.Forensic Sci. Int. Genet. 2013; 7: 217-220
- Comparison of PubMed, Scopus, web of science, and google scholar: strengths and weaknesses.FASEB J. 2008; 22: 338-342
- Three options for citation tracking: google scholar, scopus and web of science.Biomed. Digital Lib. 2006; 3: 7
- The potential for error in forensic DNA testing (and how that complicates the use of DNA databases for criminal identification).Council for Responsible Genetics (CRG) National Conference: Forensic Dna Databases and Race: Issues, Abuses and Actions. 2008;
Article info
Publication history
Published online: November 26, 2015
Identification
Copyright
© 2015 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
