Mitochondrial HVI and HVII polymorphisms and heteroplasmies inheritance in Brazilian pairs of mother/child

The mitochondrial DNA has been used in forensic identification areas due to its maternal inheritance, high mutation rate, and the high number of copies. Even the highly polymorphic regions, HVI/HVII, sometimes are of low discriminate value due to the presence of common population polymorphisms. Our...

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Bibliographic Details
Published in:Forensic science international. Genetics supplement series 2008-08, Vol.1 (1), p.277-278
Main Authors: Fridman, C., Sousa, M.L.A.P.O., Nakata, J., Gattás, I.F., Cavalheiro, S.K., Kohler, P., Gattás, G.J.F.
Format: Article
Language:English
Subjects:
HVI/HVII region
Length heteroplasmy
Mitochondrial DNA
Point heteroplasmy
Polymorphism
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Summary:The mitochondrial DNA has been used in forensic identification areas due to its maternal inheritance, high mutation rate, and the high number of copies. Even the highly polymorphic regions, HVI/HVII, sometimes are of low discriminate value due to the presence of common population polymorphisms. Our aim is to evaluate the inheritance of these polymorphisms and heteroplasmies in HVI/HVII using known pairs of mother/child analyzed in blind-test, and characterize the Brazilian population. DNA sequencing was performed in 98 pairs to HVI, with match of 71.4%, and in 88 pairs to HVII with 45.5% of match. For the joint analysis (HVI + HVII = 88 pairs) the match was of 86.4%, with 82 haplotypes: 76 (92.7%) unique and 6 seen in 2 individuals. Only HVII showed point heteroplasmies. HVI showed discriminate power much higher than HVII; the joint analysis was able to match only six pairs more than HVI. In a real situation of identification the choice of HVI to initial screening becomes obvious.
ISSN:1875-1768
1875-175X
DOI:10.1016/j.fsigss.2007.10.015