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

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