A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region

Lois A. Tully, Thomas J. Parsons, Robert J. Steighner, Mitchell M. Holland, Michael A. Marino, Valerie L. Prenger

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Abstract

A population study of heteroplasmy in the hypervariable region 1 (HV1) portion of the human mtDNA control region was performed. Blood samples from 253 randomly chosen individuals were examined using a sensitive denaturing gradient-gel electrophoresis (DGGE) system. This method is capable of detecting heteroplasmic proportions as low as 1% and virtually all heteroplasmy where the minor component is ≥5%. Heteroplasmy was observed in 35 individuals (13.8%; 95% confidence interval [CI] 9.6-18.0). Of these individuals, 33 were heteroplasmic at one nucleotide position, whereas 2 were heteroplasmic at two different positions (a condition known as 'triplasmy'). Although heteroplasmy occurred at a total of 16 different positions throughout HV1, it was most frequently observed at positions 16093 (n = 13) and 16129 (n = 6). In addition, the majority of heteroplasmic variants occurred at low proportions and could not be detected by direct sequencing of PCR products. This study indicates that low-level heteroplasmy in HV1 is relatively common and that it occurs at a broad spectrum of sites. Our results corroborate those of other recent reports indicating that heteroplasmy in the control region is more common than was previously believed - a finding that is of potential importance to evolutionary studies and forensic applications that are based on mtDNA variation.

Original languageEnglish (US)
Article number62653
Pages (from-to)432-443
Number of pages12
JournalAmerican Journal of Human Genetics
Volume67
Issue number2
DOIs
StatePublished - 2000

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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