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

Abstract

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.

Mitochondrial DNA Variability in Bosnians and Slovenians

“…Data from the following populations were used: 436 Poles and 201 Russians (Malyarchuk et al 2002); 200 Southern Germans (Lutz et al 1998); 101 Austrians (Parson et al 1998); 150 Western Germans (Baasner et al 1998;Baasner & Madea, 2000); 109 North-Western Germans (Pfeiffer et al 1999);192 Finns (Finnilä et al 2001); 30 Bulgarians (Calafell et al 1996); 83 Italians (Tagliabracci et al 2001); 204 French-speaking individuals from France and Switzerland (Rousselet & Mangin, 1998;Dimo-Simonin et al 2000); and 241 Portuguese (Pereira et al 2000).…”

Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette

“…8,9 Furthermore, five short overlapping fragments of both regions were investigated. For HV1 the primer pairs L15989/H16175, L16144/H16251 and L16190/H16410 were used.…”

Sequence polymorphisms of the mtDNA control region in a human isolate: the Georgians from Swanetia

“…For interpopulation comparison purposes, published data on both HVI haplogroups and sequence variations in the hypervariable regions HVI and HVII from many other human groups worldwide were compiled. Thus, mtDNA haplogroup data in Georgians were compared to the following 23 populations: Andalusian, Catalonian, Portuguese, Algerian (Coˆrte-Real et al 1996), British (Piercy et al 1993), North Portuguese (Pereira et al 1999), Tuscan (Francalacci et al 1996), South German (Lutz et al 1998), North-West German (Pfeiffer et al 1999), Austrian, Spanish, Egyptian, Japanese, subSaharan African, African-Americans (USA), European Americans (USA), Hispanic, Navajo (Budowle et al 1999), Basque (unpublished data), Kung (Vigilant et al 1991), French (pooled from Rousselet and Mangin 1998;Budowle et al 1999), Korean (pooled from Pfeiffer et al 1998;Budowle et al 1999), and Taiwanese (pooled from Melton et al 1995;Budowle et al 1999).…”

“…In recent years, many databases of the mtDNA control region have been published to permit mtDNA forensic casework in particular countries or geographic regions (Parson et al 1998;Rousselet and Mangin 1998;Budowle et al 1999Budowle et al , 2002Pfeiffer et al 1999;Imaizumi et al 2002;Vanecek et al 2004;Zupanic Pajnic et al 2004). However, the bulk of mtDNA sequence data published to date have been centered in the HVI segment.…”