CategoriesInterviu

ADN-ul românilor, la control. Ce secrete din trecut ne arată studiile genetice

Așa se numește ediția emisiunii DIN|interior din data de 13.07.2014, la care am fost protagonist. DIN|interior este o emisiune cultural-educativă sub marca Digi24 HD prezentată de Laurențiu Rădulescu, care are loc în fiecare duminică la 22:30.

Îi mulțumesc pe această cale, pentru interesul acordat acestui subiect și profesionalismului de care a dat dovadă pe tot parcursul colectării datelor, creierul din spatele reportajului – Andrei Udișteanu.

CategoriesPosterePublicații

mtDNA control region forensic database in the Romanian population and deep investigation of the most frequent haplotypes

Turchi C, Stanciu F, Tagliabracci A, „mtDNA control region forensic database in the Romanian population and deep investigation of the most frequent haplotypes”, Poster at DNA in Forensics 2014. 9th Y-User Workshop and 6th EMPOP meeting. Abstract book, Brussels 14-16 mai 2014, P33, p.110.

Abstract:

Romanian population is composed of 88.92% Romanians, 6.5% Hungarians, 3.29% Roma and 1.29%  other populations (2011 census). From the historical point of view Romanians are an admixture of local and surrounding populations. Romania can be ided in 4 major historical regions, each with its particular populations influence: Moldavia that during the past was the Eastern Europe border in front of Mongol,  Tatar and Ottoman invasions; Transylvania, where the Austro-Hungarian Empire had an important influence;  Wallachia, whose population is the result of Roman Empire conquests, the Slav migration from the north, and the Turkish south-east influence; and Dobruja, in the past conquered by Greeks, Romans, Tatars, Turks and Slavs. Previous genetic studies made on Y-STR markers suggest that the Slavic influences were dominant and from the perspective of general population (autosomal markers) the dominant influences were Slavic, Italian, Greek and Turkish; unfortunately there are limited data on mtDNA variation in the general population. In order to analyze the heterogeneity of Romanian population from a mitochondrial lineages point of view and to establish appropriate mtDNA forensic database, we generate a high-quality mtDNA control region data from a Romanian population sample. ~400 healthy Romanian donors, from different regions of the country, were subjected to control region sequence analysis. Two PCR fragments were sequenced by using ten different sequencing primers, according to forensic standards. To ensure high data quality at least a double reading of each site and an independent evaluation of electropherograms were performed. A phylogenetic approach for a posteriori analysis of the mtDNA types was applied and sequences were aligned according to the mitochondrial phylogeny. To increase the utility of mtDNA analysis in forensics, the Personal Genome Machine was used to sequence complete mtGenomes of the most common haplotypes, in order to investigate in more detail specific coding region variations.

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CategoriesRubrica de Știință

Proiect mtDNA.350RO

În cadrul proiectului de cercetare în care sunt implicat, denumit sugestiv mtDNA.350RO, a cărui scop este prelevarea de probe biologice de la persoane născute în România și genotiparea ADN-ului mitocondrial, pentru stabilirea fondului genetic al populației romanești pentru markerii HVR1 și HVR2, am primit următorul feedback:

– Și ce aflu dacă îmi fac analiza ADN-ului mitocondrial?
– Descendența pe linie maternă.
– Bine-bine, dar ce aflu?…

CategoriesArticolePublicații

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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CategoriesPosterePublicații

Valorificarea reziduurilor biologice obținute în urma analizelor medicale pentru studii de Genetică Forensică

Stanciu F, Sevastre O, Tinischi M, Stoian V. Poster la 4th Medical Genetic Romanian Association Conference, 18-20 Septembrie 2008 Craiova, România.

Abstract:

În situații deosebite în care recoltarea de probe biologice de referință este imposibilă prin metodele clasice, analizele medicale efectuate în laboratoarele de screening, respectiv reziduurile biologice obținute în urma efectuării acestora, pot furniza date genetice valoroase cu aplicabilitate în genetica forensică. În acest sens am evaluat o serie de reziduuri in componența cărora pot exista celule nucleate pretabile genotipării, urmărind factori precum timpul și condițiile de păstrare ale probelor biologice în laboratoarele medicale, degradarea ADN-ului, prezența contaminării, rata succesului calculata la numărul de loci amplificaţi, etc.. Am efectuat izolarea totală a ADN-ului folosind o forma adaptata a protocolului AGOWA mag DNA Isolation Kit pentru platforma automată de manipulare a lichidelor Freedom EVO 150. Din extractele de ADN obținute au fost amplificați 16 markeri STR folosind AmpFlSTR Identifiler PCR Amplification Kit. Ampliconii au fost analizați prin electroforeza capilară folosind analizorul ABIPrism 3100. Rezultatele obținute au fost interpretate folosind GeneScan și Genotyper Software conform standardelor specifice analizelor de genetica forensică.

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