A 9-bp deletion homoplasmy in women with polycystic ovary syndrome revealed by mitochondrial genome-mutation screen

Biochem Genet. 2010 Feb;48(1-2):157-63. doi: 10.1007/s10528-009-9308-5. Epub 2009 Nov 22.


Polycystic ovary syndrome (PCOS) is a complex and heterogeneous disorder presenting a challenge for clinical investigators. To investigate the association of a mitochondrial genetic basis with PCOS, we screened mutations of the whole mitochondrial genome in 57 women patients with PCOS and 38 healthy control individuals. Two-step PCR reactions were adopted to amplify and sequence the whole mitochondrial genome. A 9-bp deletion variant appeared in homoplasmy between PCOS patients and control individuals. In the 62 individuals with complete sequences, eight of 34 (23.5%) patients showed the 9-bp deletion, compared with only two of 28 (7.1%) in healthy controls. The 9-bp deletion variant in region V of mitochondrial DNA may be associated with the heterogeneous disorder PCOS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA, Mitochondrial / genetics
  • Female
  • Genetic Variation
  • Genome*
  • Genome, Mitochondrial / genetics*
  • Humans
  • Mutagenesis, Insertional
  • Mutation
  • Point Mutation
  • Polycystic Ovary Syndrome / genetics*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single Nucleotide*
  • Reference Values
  • Sequence Deletion*


  • DNA, Mitochondrial