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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Heteroplasmy in Hair: Study of Mitochondrial DNA Third Hypervariable Region in Hair and Blood Samples

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Paneto, Greiciane G. [1] ; Longo, Larissa V. G. [1] ; Martins, Joyce A. [1] ; de Camargo, Maria Angelica [1] ; Costa, Jeane C. [1] ; de Mello, Aline C. O. [1] ; Chen, Bety [2] ; Oliveira, Rogerio N. [3] ; Hirata, Mario H. [2] ; Cicarelli, Regina M. B. [1]
Total Authors: 10
[1] Sao Paulo State Univ, Sch Pharmaceut Sci, UNESP, BR-14801902 Araraquara, SP - Brazil
[2] Univ Sao Paulo, Sch Pharmaceut Sci, BR-05508900 Sao Paulo - Brazil
[3] Univ Sao Paulo, Sch Dent, BR-05508900 Sao Paulo - Brazil
Total Affiliations: 3
Document type: Journal article
Source: JOURNAL OF FORENSIC SCIENCES; v. 55, n. 3, p. 715-718, MAY 2010.
Web of Science Citations: 6

Mitochondrial DNA (mtDNA) analysis has proved useful for forensic identification especially in cases where nuclear DNA is not available, such as with hair evidence. Heteroplasmy, the presence of more than one type of mtDNA in one individual, is a common situation often reported in the first and second mtDNA hypervariable regions (HV1/HV2), particularly in hair samples. However, there is no data about heteroplasmy frequency in the third mtDNA hypervariable region (HV3). To investigate possible heteroplasmy hotspots, HV3 from hair and blood samples of 100 individuals were sequenced and compared. No point heteroplasmy was observed, but length heteroplasmy was, both in C-stretch and CA repeat. To observe which CA ``alleles{''} were present in each tissue, PCR products were cloned and re-sequenced. However, no variation among CA alleles was observed. Regarding forensic practice, we conclude that point heteroplasmy in HV3 is not as frequent as in the HV1/HV2. (AU)