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

• NCJ Number: 231221
• Journal: Journal of Forensic Sciences Volume: 55 Issue: 3 Dated: May 2010 Pages: 715-718
• Author(s): Greiciance G. Paneto, M.Sc.; Larissa V.G. Longo, B.S.; Joyce A. Martins, M.Sc.; Maria Angelica de Camargo, B.S.; Jeane C. Costa, B.S.; Aline C.O. de Mello, B.S.; Bety Chen, M.Sc.; Rogerio N. Oliveira, Ph.D.; Mario H. Hirata, Ph.D.; Regina M.B. Cicarelli, Ph.D.
• Date Published: May 2010
• Length: 4 pages
• Grant Number(s): 2005/03984-5; 2007-0/140052; 2006/06772-1
• Sponsoring Agency: Foundation for Research Support of São Paulo - FAPESP; Brazilian National Council for Scientific and Technological Development (CNPq)
• Publication Format: Article
• Publication Type: Report (Study/Research)
• Language: English
• Country: United States of America
• Note: Presented at the DNA in Forensics 2008 Conference, May 27-30, 2008, in Ancona, Italy.

Annotation

To investigate possible heteroplasmy hotspots, HV3 from hair and blood samples of 100 individuals were sequenced and compared.

Abstract

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). No point heteroplasmy was observed in the current study, 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. 1 figure and 28 references (Published Abstract)