International Journal of Legal Medicine

, Volume 120, Issue 5, pp 271–281 | Cite as

Mitochondrial DNA sequence variation in Jewish populations

  • A. PicornellEmail author
  • P. Giménez
  • J. A. Castro
  • M. M. Ramon
Original Article


Sequence analysis of HVRI and HVRII mitochondrial DNA was carried out on 107 Jewish samples from Ashkenazi, Oriental, North African, and Sephardic origins. Control region sequences were assigned to a haplogroup by means of the analysis of the RFLP motif -7025 AluI or by using sequence motifs. A total of 88 different haplotypes were observed with a lower incidence of unique haplotypes (68.2%) than in other populations. Four individuals with one position of sequence heteroplasmy at nucleotides 16093, 16134, 16169, and 235, respectively, were detected. The mean pairwise difference in the Jewish population was 9.7 nucleotides. The gene diversity was 0.996, and the random match probability was 1.3%. When the data were compared with the autosomal and Y-chromosome markers previously studied in these populations, sex-specific differences could be observed in the Jewish populations. This fact must be taken into account for choosing suitable databases to correctly weigh the value of the evidence of a mtDNA and/or Y profile match.


mtDNA HVRI HVRII Haplogroups Jewish populations 



This work was supported by grant PM97-0041 from the Dirección General de Enseñanza Superior (Spain) and by grants PRDIB-2002-GC3-15 and PRDT-2003-12099 from the Direcció General de Recerca, Desenvolupament Tecnològic i Innovació (Comunitat Autònoma de les Illes Balears). We thank Dr. Lourdes Prieto for her helpful technical assistance.

Supplementary material (14.3 mb)
HVR I (ZIP 15 mb) (15.9 mb)
HVR II (ZIP 17 mb)


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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • A. Picornell
    • 1
    Email author
  • P. Giménez
    • 1
  • J. A. Castro
    • 1
  • M. M. Ramon
    • 1
  1. 1.Institut Universitari d’Investigacions en Ciències de la Salut (IUNICS) i Laboratori de Genètica, Departament de BiologiaUniversitat de les Illes BalearsPalma de MallorcaSpain

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