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

Autor:	Gilka Jorge Fígaro Gattás, Cintia Fridman, J. Nakata, I.F. Gattás, Priscila Kohler, S.K. Cavalheiro, M.L.A.P.O. Sousa
Rok vydání:	2008
Předmět:	Genetics Mutation rate education.field_of_study Non-Mendelian inheritance Mitochondrial DNA Population Haplotype Inheritance (genetic algorithm) Biology DNA sequencing Pathology and Forensic Medicine Forensic identification education
Zdroj:	Forensic Science International: Genetics Supplement Series. 1:277-278
ISSN:	1875-1768
DOI:	10.1016/j.fsigss.2007.10.015
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::e338d961be3e2fcf5d281f5a8a781f3b https://doi.org/10.1016/j.fsigss.2007.10.015 Zobrazit plný text záznamu Full Text from ScienceDirect