A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

Biochem Biophys Res Commun. 2006 Apr 7;342(2):387-93. doi: 10.1016/j.bbrc.2006.01.152. Epub 2006 Feb 8.


Determination of mitochondrial DNA (mtDNA) heteroplasmy for the diagnosis of patients with mitochondrial disorders is a difficult task due to the coexistence of wild-type and mutant genomes. We have developed a new method for genotyping and quantification of heteroplasmic point mutations in mtDNA based on the SNaPshot technology. We compared the data of this method with the widely used "last hot-cycle" PCR-RFLP method by studying 15 patients carrying mtDNA mutations. We showed that SNaPshot is an accurate, reproducible, and sensitive technique for the determination of heteroplasmic mtDNA mutations in different tissues from patients, and it is a promising system to be used in prenatal and postnatal diagnosis of mtDNA-associated disorders.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Fusion
  • Cell Line
  • Cell Line, Tumor
  • Cells, Cultured
  • DNA, Mitochondrial / genetics*
  • Humans
  • Linear Models
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / pathology
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Regression Analysis
  • Sequence Analysis, DNA / methods*


  • DNA, Mitochondrial