Polymorphism in mtDNA control region of Mizo-Mongloid Breast Cancer samples as revealed by PCR-RFLP analysis

Souvik Ghatak, Doris Lallawmzuali, Subhajit Mukherjee, Lal Mawia, Jeremy L Pautu, Nachimuthu Senthil Kumar

Research output: Contribution to journalArticlepeer-review


Mutations in mitochondrial D-loop region of DNA (mtDNA) may serve as a potential sensor for cellular DNA damage and marker for cancer development. We investigated the restriction fragment length polymorphism (RFLP) pattern of the D-loop region in the blood samples of breast cancer patients among Mizoram population. Significant differences were observed among breast cancer and healthy blood samples in the RFLP pattern using AluI, HaeIII and RsaI enzymes. Polymorphic information content (PIC - 0.258), band informativeness (∑Ib - 3.283) and marker index (MI - 0.006) were highest in the case of RsaI enzyme. Our data suggest that the RsaI polymorphic site in the mitochondrial control region is an informative marker for breast cancer development in Mizo population.

Original languageEnglish
Pages (from-to)2205-8
JournalMitochondrial DNA, Part A: DNA mapping, sequencing, and analysis
Issue number3
Publication statusPublished - 2016 May
Externally publishedYes

Subject classification (UKÄ)

  • Cancer and Oncology

Free keywords

  • Biomarkers, Tumor/genetics
  • Breast Neoplasms/blood
  • DNA, Mitochondrial/genetics
  • Female
  • Genes, Mitochondrial
  • Genome/genetics
  • Genome, Mitochondrial/genetics
  • Humans
  • Mitochondria/genetics
  • Mongolia
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length/genetics
  • Sequence Analysis, DNA/methods
  • Whole Genome Sequencing/methods


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