Int J Legal Med. 1999;112(5):291-8.

Expanding the forensic German mitochondrial DNA control region database: genetic diversity as a function of sample size and microgeography.

Pfeiffer H, Brinkmann B, Huhne J, Rolf B, Morris AA, Steighner R, Holland MM, Forster P.

Institute of Legal Medicine, University of Munster, Von-Esmarch-Strasse 62, D-48149 Munster, Germany.

Mitochondrial DNA control region sequences were determined in 109 unrelated German Caucasoid individuals from north west Germany for both hypervariable regions 1 (HV1) and 2 (HV2) and 100 polymorphic nucleotide positions (nps) were found, 63 in HV1 and 37 in HV2. A total of 100 different mtDNA lineages was revealed, of which 7 were shared by 2 individuals and 1 by 3 individuals. The probability of drawing a HV1 sequence match within the north west Germans or within published sets of south Germans and west Austrians is similar (within a factor of 2) to drawing a sequence match between any two of these three population samples. Furthermore, HV1 sequences of 700 male inhabitants of one village in Lower Saxony were generated and these showed a nearly linear increase of the number of different haplotypes with increasing number of individuals, demonstrating that the commonly used haplotype diversity measure (Nei 1987) for population samples tends to underestimate mtDNA diversity in the actual population