The polymorphism of the two hypervariable segments (HVI and HVII) of the co
ntrol region of mtDNA was analyzed in a population of 154 unrelated individ
uals from south west Switzerland using a fluorescent based capillary electr
ophoresis sequencing method.
In our population data of 154 random individuals, 137 mtDNA types were obse
rved. Of these, 124 sequences were observed only in one individual whereas
10 sequences were observed in 2 individuals, 2 sequences in 3 individuals a
nd 1 sequence in 4 individuals. The probability of two unrelated individual
s having the same sequence was 0.84%. The results were compared with four o
ther Caucasian populations.
Furthermore, the usefulness of the mtDNA sequencing was tested, for exclusi
on and inclusion, in 18 forensic cases including 69 evidence samples and 44
reference samples. Despite the fact that 55% of the evidence samples yield
ed a negative result for the nuclear DNA with the human dot quantitation sy
stem, the success rate of the mtDNA sequencing was 71.0%. This validation s
tudy proves the seat usefulness and sensitivity of the mtDNA sequencing tec
hnique using nested PCR and fluorescent capillary electrophoresis.