A Sensitive Denaturing Gradient-Gel Electrophoresis Assay Reveals a High Frequency of Heteroplasmy in Hypervariable Region 1 of the Human mtDNA Control Region

Published

August 1, 2000

Author(s)

L A. Tully, T. J. Parsons, R J. Steighner, M M. Holland, M A. Marino, V L. Prenger

Abstract

A population study of heteroplasmy in the hypervariable region 1 (HV1) portion of the human Mitochondrial DNA (mtDNA) control region was performed. Blood samples from 253 biologically unrelated individuals from a random population were examined using a sensitive denaturant gradient gel electrophoresis (DGGE) system. This method is capable of detecting heteroplasmic proportions as low as 1%, and of detecting virtually all heteroplasmy where the minor component is 5% or more. Heteroplasmy was observed in 35 individuals, or 13.8% (95% C.L. 9.6-18.0). Thirty-three of these individuals were heteroplasmic at a single nucleotide position, whereas two 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). Additionally, the majority of heteroplasmic variants occurred at low proportions and could no be detected by direct sequencing of PCR products. This study indicates that low level heteroplasmy in HV1 is relatively common, and occurs at a broad spectrum of sites. Our results corroborate other recent reports that heteroplasmy in the control region is more common than previously believed, a finding of potential importance to evolutionary studies and forensic applications that are based on mt DNA variation.

Citation

American Journal of Human Genetics

Volume

67

Issue

No. 2

Pub Type

Journals

Keywords

control region, DGGE, genetics, heteroplasmy, human, hypervariable region 1, mitochondrial DNA, populations

Citation

Tully, L. , Parsons, T. , Steighner, R. , Holland, M. , Marino, M. and Prenger, V. (2000), A Sensitive Denaturing Gradient-Gel Electrophoresis Assay Reveals a High Frequency of Heteroplasmy in Hypervariable Region 1 of the Human mtDNA Control Region, American Journal of Human Genetics (Accessed October 13, 2025)