Highlights
- •A high-quality mtDNA control region dataset from 407 Romanian samples were generated.
- •The Romanian gene pool is mainly composed of West Eurasian lineages.
- •The variations show a high molecular diversity and low random match probability.
- •This dataset provides a useful forensic database in routine forensic mtDNA analysis.
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
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Forensic Science International: GeneticsAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- An early modern human from the Pestera cu Oase, Romania.Proc. Natl. Acad. Sci. U. S. A. 2003; 100: 11231-11236
- An early modern human from Romania with a recent Neanderthal ancestor.Nature. 2015; 524: 216-219
- National Institute of Statistics Press Release No. 159 of July 4th, 2013 on the Final Results of Population and Housing Census—2011 (demographic Characteristics of Population).2015 (2015, October 10)
- Romania’s History.2015 (2015, October 10)
- Genetic analysis of Romanian human populations, using Short Tandem Repeat markers.Ph.D Thesis. University of Bucharest, 2011
- Population data for Y-chromosome haplotypes defined by 17 STRs in South-East Romania.Leg. Med. (Tokyo). 2010; 12: 259-264
- Paternal and maternal lineages in the Balkans show a homogeneous landscape over linguistic barriers, except for the isolated Aromuns.Ann. Hum. Genet. 2006; 70: 459-487
- The Carpathian range represents a weak genetic barrier in South-East Europe.BMC Genet. 2014; 15: 56
- DNA Commission of the International Society for Forensic Genetics: revised and extended guidelines for mitochondrial DNA typing.Forensic Sci. Int. Genet. 2014; 13: 134-142
- Extended guidelines for mtDNA typing of population data in forensic science.Forensic Sci. Int. Genet. 2007; 1: 13-19
- Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA.Nat. Genet. 1999; 23: 147
- Consistent treatment of length variants in the human mtDNA control region: a reappraisal.Int. J. Legal Med. 2008; 122: 11-21
- Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing.Int. J. Legal Med. 2008; 122: 199-204
- Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation.Hum. Mutat. 2009; 30: E386-394
- Concept for estimating mitochondrial DNA haplogroups using a maximum likelihood approach (EMMA).Forensic Sci. Int. Genet. 2013; 7: 601-609
- Statistical method for testing the neutral mutation hypothesis by DNA polymorphism.Genetics. 1989; 123: 585-595
- Arlequin suite ver 3. 5: a new series of programs to perform population genetics analyses under Linux and Windows.Mol. Ecol. Resour. 2010; 10: 564-567
- The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns.Int. J. Legal Med. 2010; 124: 195-204
- Investigation of heteroplasmy in the human mitochondrial DNA control region: a synthesis of observations from more than 5000 global population samples.J. Mol. Evol. 2009; 68: 516-527
- Tracing European founder lineages in the Near Eastern mtDNA pool.Am. J. Hum. Genet. 2000; 67: 1251-1276
- The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.Am. J. Hum. Genet. 2004; 75: 910-918
- Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia.Mol. Biol. Evol. 2004; 21: 2012-2021
- Helena, the hidden beauty: resolving the most common West Eurasian mtDNA control region haplotype by massively parallel sequencing an Italian population sample.Forensic Sci. Int. Genet. 2015; 15: 21-26
- High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium.Genome Res. 2005; 15: 19-24
- Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans.Am. J. Hum. Genet. 2007; 80: 759-768
- New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.PLoS One. 2009; 4: e5112
- Migration rates and genetic structure of two Hungarian ethnic groups in Transylvania, Romania.Ann. Hum. Genet. 2007; 71: 791-803
- Mitochondrial DNA control region population data from Macedonia.Forensic Sci. Int. Genet. 2007; 1: e4-9
- Mitochondrial control region sequences from northern Greece and Greek Cypriots.Int. J. Legal Med. 2008; 122: 87-89
- Hungarian mtDNA population databases from Budapest and the Baranya county Roma.Int. J. Legal Med. 2007; 121: 377-383
- Harvesting the fruit of the human mtDNA tree.Trends Genet. 2006; 22: 339-345
- Mitochondrial DNA phylogeny in eastern and western slavs.Mol. Biol. Evol. 2008; 25: 1651-1658
- Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugia.Am. J. Hum. Genet. 2012; 90: 915-924
- Origin and diffusion of mtDNA haplogroup X.Am. J. Hum. Genet. 2003; 73: 1178-1190
- Mitochondrial DNA variability in Slovaks, with application to the Roma origin.Ann. Hum. Genet. 2008; 72: 228-240
Article info
Publication history
Published online: June 30, 2016
Accepted:
June 18,
2016
Received in revised form:
May 26,
2016
Received:
January 19,
2016
Identification
Copyright
© 2016 Elsevier Ireland Ltd. All rights reserved.