Forensic evaluation of mtDNA in a population from south west Switzerland

Abstract

The polymorphism of the two hypervariable segments (HVI and HVII) of the control region of mtDNA was analyzed in a population of 154 unrelated individuals from south west Switzerland using a fluorescent based capillary electrophoresis sequencing method. In our population data of 154 random individuals, 137 mtDNA types were observed. Of these, 124 sequences were observed only in one individual whereas 10 sequences were observed in 2 individuals, 2 sequences in 3 individuals and 1 sequence in 4 individuals. The probability of two unrelated individuals having the same sequence was 0.84%. The results were compared with four other Caucasian populations. Furthermore, the usefulness of the mtDNA sequencing was tested, for exclusion and inclusion, in 18 forensic cases including 69 evidence samples and 44 reference samples. Despite the fact that 55% of the evidence samples yielded a negative result for the nuclear DNA with the human dot quantitation system, the success rate of the mtDNA sequencing was 71.0%. This validation study proves the great usefulness and sensitivity of the mtDNA sequencing technique using nested PCR and fluorescent capillary electrophoresis.

Mitochondrial DNA Variability in Bosnians and Slovenians

“…For example, H-haplotype 16223 revealed in the mtDNA pool of Slovenians is present in European populations being found in South Germans and Ukrainians (Lutz et al 1998;Malyarchuk & Derenko, 2001). Rare H-haplotype 16263, found in Slovenians, has so far been observed only in Germans (Table 5) and in French-speaking populations (Rousselet & Mangin, 1998;Dimo-Simonin et al 2000). Besides the H-sequences, there are also several geographically informative J-and U5-sequence types.…”

“…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 Portrait of Latvians: Towards the Understanding of the Genetic Structure of Baltic‐Speaking Populations

“…Committee of Riga Stradins University approved the research protocol. For comparison, the mtDNA database of 11,236 individuals, consisting of published mtDNA data (Baasner et al 1998;Bermisheva et al 2002;Cali et al 2001;Comas et al 1998;Crespillo et al 2000;Derbeneva et al 2002aDerbeneva et al , 2002bDerenko et al 2003;Dimo-Simonin et al 2000;Dubut et al 2004;Helgason et al 2001Helgason et al , 2000Kasperavičiūtė et al 2004;Kittles et al 1999;Lahermo et al 1996;Larruga et al 2001;Loogväli et al 2004;Lutz et al 1998;Malyarchuk & Derenko, 2001;Malyarchuk et al 2003Malyarchuk et al , 2002Meinilä et al 2001;Mogentale-Profizi et al 2001;Passarino et al 2002;Pereira et al 2001;Pfeiffer et al 1999;Richards et al 2000;Tagliabracci et al 2001) as well as our unpublished mtDNA data from 4732 individuals from different Eurasian populations, were used as background information for the analysis.…”

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

“…The RMP value was lower in hypervariable region HVI (3.4%) than in HVII (4.5%) ( Table 3). In a logical reflection of the data on diversity parameters (Nd and Sd), the RMP value estimated for the Georgian population considering HVI and HVII (2.6%) was clearly above the variation range estimated for the Spanish regions of Aragon (1.3%) and Madrid (1.5%), and for other European populations such as those of Switzerland (0.9%), France (2.1%), Germany (0.9%), Austria and the United Kingdom (1.3%) (Dimo-Simonin et al 2000). These findings suggest that the variability of maternal lineages tends to be lower in traditional human isolates, most likely because of extremely restricted gene flow and high inbreeding levels over long periods.…”