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Solving the first murder case in Romania using Familial Searching

F. Stanciu, E. Dragomir, T. Bratu. Rom J Leg Med29(3)295-298(2021)

Abstract:

The DNA of each of us is made from parts of our biological family: we share half of our autosomal DNA with our fathers, mothers, sons and daughters; we share a quarter of our autosomal DNA with our grandfathers, grandmothers, nephews and nieces; we share a variable proportion of autosomal DNA with our brothers and sisters; we share the same Y chromosome with our paternal lineage, if we are men, or we share the same mitochondrial DNA with our maternal lineage, if we are women. Those are our close kinship ties, but at some level all humans are related to each other. These biological rules allow today forensic specialists to find the author of an unidentified DNA profile based on its relatives DNA. This article presents, on short, the story of the first murder case solved in Romania using Familial searching and CODIS.

Keywords: forensic DNA databases, routine searching, familial searching, CODIS, National Judicial Genetic Data System

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Searching the undetected mtDNA variants in forensic MPS data

Melchionda F, Stanciu F, Buscemi L, Pesaresi M, Tagliabracci A, Turchi C. Forensic Sci Int Genet. 2020 Nov;49:102399

Abstract:

The efficiency of MPS in forensic mtDNA analysis has been thoroughly proven, although a reliable and well established data evaluation still remains a critical point. Numerous bioinformatics tools have been developed, but most of them require specific operating systems and high costs, while free open-source programs with user-friendly interfaces are few. In this study, 43 full mtGenomes were sequenced using the Ion Personal Genome Machine™ (PGM™) System and analyzed utilizing the plug-in Variant Caller (TVC) of the Ion Torrent Software Suite and the mtDNA-Server (mDS), a free web-based mitochondrial analysis tool for MPS data. The outcomes of these two different analysis tools were compared to variants noted after manual inspection of the aligned reads performed using Integrative Genomics Viewer (IGV). The comparison highlighted the presence of thirty-nine discordant variant calls, which were resolved by Sanger sequencing that confirmed the presence of all variants, except for 7 deletions. The combined adoption of IGV and Sanger type sequencing confirmatory steps, in addition of TVC and mDS analysis, resulted in a more accurate variants assignment with the detection of 32 additional true polymorphisms, which were noted in the final dataset. Regarding the heteroplasmy issue, out of a total of thirty heteroplasmic variants, twenty-eight were detected by the TVC, while the mDS detected twenty-two.

Overall, none of the used bioinformatics tools were the perfect choice and a secondary analysis with an expert’s opinion in complete mtGenome MPS data evaluation is still required in forensic genetic analysis.

Keywords: Mitochondrial, DNAMassive, parallel sequencing, Point heteroplasmy, Variants call, Forensic genetics

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The mitochondrial DNA makeup of Romanians: A forensic mtDNA control region database and phylogenetic characterization

Turchi C, Stanciu F, Paselli G, Buscemi L, Parson W, Tagliabracci A. Forensic Sci Int Genet. 2016 Sep;24:136-142. doi: 10.1016/j.fsigen.2016.06.013. Epub 2016 Jun 30. PMID: 27414754.

Abstract:

To evaluate the pattern of Romanian population from a mitochondrial perspective and to establish an appropriate mtDNA forensic database, we generated a high-quality mtDNA control region dataset from 407 Romanian subjects belonging to four major historical regions: Moldavia, Transylvania, Wallachia and Dobruja. The entire control region (CR) was analyzed by Sanger-type sequencing assays and the resulting 306 different haplotypes were classified into haplogroups according to the most updated mtDNA phylogeny. The Romanian gene pool is mainly composed of West Eurasian lineages H (31.7%), U (12.8%), J (10.8%), R (10.1%), T (9.1%), N (8.1%), HV (5.4%),K (3.7%), HV0 (4.2%), with exceptions of East Asian haplogroup M (3.4%) and African haplogroup L (0.7%).

The pattern of mtDNA variation observed in this study indicates that the mitochondrial DNA pool is geographically homogeneous across Romania and that the haplogroup composition reveals signals of admixture of populations of different origin. The PCA scatterplot supported this scenario, with Romania located in southeastern Europe area, close to Bulgaria and Hungary, and as a borderland with respect to east Mediterranean and other eastern European countries.

High haplotype diversity (0.993) and nucleotide diversity indices (0.00838 ` 0.00426), together with low random match probability (0.0087) suggest the usefulness of this control region dataset as a forensic database in routine forensic mtDNA analysis and in the investigation of maternal genetic lineages in the Romanian population.

Keywords: Mitochondrial DNA, Forensic database, Haplogroup, Romanians

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Genetic parameters and allele frequencies of five new European Standard Set STR loci (D10S1248, D22S1045, D2S441, D1S1656, D12S391) in the population of Romania

Stanciu F, Vladu S, Cutar V, Cocioaba D, Iancu F, Cotolea A, Stoian IM. Croat Med J. 2013 Jun;54(3):232-7. doi: 10.3325/cmj.2013.54.232. PMID: 23771753; PMCID: PMC3692331.

Aim: To establish allele frequencies and genetic parameters for 5 new European Standard Set short tandem repeat (STR) loci in the population of Romania and to compare them with those in other populations.

Methods: DNA was isolated using QIAamp 96 DNA Swab BioRobot Kit and Chelex 100 methods. Polymerase chain reaction amplification was done using Investigator ESSplexPlus Kit (D1S1656, D2S441, D2S1338, D3S1358, D8S1179, D10S1248, D12S391, D16S539, D18S51, D19S433, D21S11, D22S1045, FGA, TH01, and vWA). For DNA typing, Applied Biosystems 3500/3500xL Genetic Analyzer was used. Statistical analysis was done using Powerstats, GDA, and Arlequin software.

Results: Power of discrimination and polymorphism information content was highest for two new ESS loci, D1S1656 and D12S391. Comparison of allele frequencies for 5 new ESS loci in Romanian population with previously published population data showed significant differences for all compared populations, with the exception of Hungary. Geographically more distant populations, such as Spain, Sweden, United Kingdom, Germany, and Portugal differed more than closer populations.

Conclusion: New ESS STR loci are very useful for the analysis of forensic samples (persons or traces) due to their characteristics (shortness and high polymorphism). In comparisons with other common STR markers, they have a higher power of discrimination and also higher polymorphism information content, and could be used in any national DNA database.

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Population data for Y-chromosome haplotypes defined by 17 STRs in South-East Romania

Stanciu F, Cuţăr V, Pîrlea S, Stoian V, Stoian IM, Sevastre O, Popescu OR. Leg Med (Tokyo). 2010 Sep;12(5):259-64. doi: 10.1016/j.legalmed.2010.05.007. PMID: 20621540.

Abstract:

Haplotypes and allele frequencies for 17 STR loci included in AmpFlSTR YFiler kit (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATAH4, DYS437, DYS438 and DYS448) were determined in a sample of 122 unrelated males living in the South-East Romania. Genetic distances had been calculated and dendrograms had been generated for, South-East Romanian population and other eighteen surrounding populations.

Keywords: Short Tandem Repeats (STRs) AmpFlSTR YFiler, Y-chromosome haplotypes, South-East Romania

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