TY - JOUR ID - 250077 TI - Detecting Rare Triple Heteroplasmic Substitutions in the Mitochondrial DNA Control Region: A Potential Concern for Forensic DNA Studies JO - Cell Journal (Yakhteh) JA - CELLJ LA - en SN - 2228-5806 AU - Morovvati, Saeid AU - Morovvati, Ziba AU - Ranjbar, Reza AD - . Research Center for Human Genetics, Baqiyatallah University of Medical Sciences, Tehran, Iran AD - 2. Research Center of Molecular Biology, Baqiyatallah University of Medical Sciences,Tehran, Iran Y1 - 2011 PY - 2011 VL - 13 IS - 2 SP - 103 EP - 106 KW - mtDNA KW - Hypervariable Region KW - identification KW - Forensic Genetics DO - N2 - Objective Mitochondrial DNA (mtDNA) is a useful tool for population studies, identification of humans and forensic DNA studies. The existence of several hundreds copies of mtDNA per cell permit its extraction from minute or degraded samples. In addition, the level of polymorphism in the hypervariable (HV) region is high enough to permit its use in human identity testing. However, the presence of several heteroplasmy might lead to ambiguous results. Materials and Methods: This study was an experiental study. This study evaluated heteroplasmy in the HV region of mtDNA in blood samples of 30 Iranians who belonged to ten unrelated families from three sequential generations (grandmother, mother and daughter). Results:There were no heteroplasmic substitutions in the HV1 region, but analysis of HV2 showed heteroplasmic substitutions in two out ten families. In the first family the grandmother showed heteroplasmy (T/C) in nucleotide positions 146 and 151, however it was not detected in the mother and daughter. In second family, a triple heteroplasmy (T/C) was detected in the daughter in nucleotide positions 146, 151 and 295, but these heteroplasmic substitutions were not obvious in the grandmother and mother. Conclusion:Heteroplasmy in mtDNA is not a rare phenomenon and probably exists in everyone, but a triple heteroplasmy in one family member is a novel finding. Our results demonstrate that one or two sequence differences between samples in mtDNA do not warrant exclusion. In our study, the average nucleotide difference between unrelated persons in the HV2 region was 2.8 nucleotides, whereas there was a triple heteroplasmy in one person which was not obvious in her family. UR - https://www.celljournal.org/article_250077.html L1 - https://www.celljournal.org/article_250077_b337e04488167b8d5cabce06b7bfbc22.pdf ER -