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Recherche de mutations ponctuelles de l'ADN mitochondrial dans l'os pour une détermination de l'âge

Abstract : In recent years, numbers of reports have suggested that during individual natural aging, heteroplasmic point mutations accumulate in the control region of mitochondrial DNA (mtDNA) of some tissue types. In the present study, we searched to evaluate the most efficient method for detecting low levels of heteroplasmy, determine whether these mutations were really age-related and assess the possible implications of heteroplasmies in anthropological and forensic studies. In first time, in two tissue types, muscle samples and buccal cells, we carried out the sensitive detection and quantification of point mutation A189G with peptid nucleic acid (PNA) and Real Time PCR (qPCR) together. Our results give additional information on the increase in mutation frequency with age in muscle tissue and revealed that the PNA/Real Time PCR is a largely more sensitive method than DNA sequencing for heteroplasmy detection, confirmed by Southern blot. In second time, we worked on bone tissues, on the one hand, from individuals where age was known in forensic identification, on the other hand, from ancient skeletons of the Eastern Siberia, where age determination was done using bone indicators. We showed the A189G heteroplasmy accumulation on individuals of 70 years old or more, when age is known, and on identified old individuals by bone indicators. The automatic sequencing revealed two other heteroplasmies (T72C and A73G) on individuals of 50 years old or more, in muscle and bone tissues, heteroplasmies already described in literature. These investigations could be of interest in the detection and interpretation of mtDNA heteroplasmy in anthropological and forensic studies.
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Contributor : Catherine Thèves <>
Submitted on : Thursday, July 31, 2008 - 11:14:40 AM
Last modification on : Wednesday, January 6, 2021 - 1:56:02 PM
Long-term archiving on: : Thursday, June 3, 2010 - 5:13:28 PM


  • HAL Id : tel-00308590, version 1


Catherine Thèves. Recherche de mutations ponctuelles de l'ADN mitochondrial dans l'os pour une détermination de l'âge. Anthropologie biologique. Ecole des Hautes Etudes en Sciences Sociales (EHESS), 2006. Français. ⟨tel-00308590⟩



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