Mitochondrial DNA deletion in human oocytes and embryos

Mol Hum Reprod. 1998 Sep;4(9):887-92. doi: 10.1093/molehr/4.9.887.


Mitochondrial DNA (mtDNA) deletions are present in both human oocytes and embryos. It has been found that these tissues contain a mtDNA mutation which is present in high amounts in patients with Kearns-Sayre syndrome (KSS) and progressive external ophthalmoplegia. In the present study, the frequency of this KSS deletion was investigated in human oocytes and embryos. Using a nested primer polymerase chain chian reaction (PCR) strategy, the frequency of the KSS deletion in 74 human oocytes and 137 embryos was found to be 32.8 and 8.0% respectively. Using a 'long PCR-short PCR' nested primer strategy, the frequency of the KSS deletion in 181 human oocytes and 104 embryos was found to be 47.0 and 20.2% respectively. There was no statistical correlation between the age of the patients at the time of oocyte retrieval and the presence of the deleted molecules. There was a statistical difference between the presence of the deleted molecules in oocytes versus embryos using either technique (P < 0.0001). The relevance of these findings to the accumulation of low levels of deleted mtDNA in both oocytes and embryos is discussed in this study.

MeSH terms

  • Adult
  • Aging / genetics
  • Base Sequence
  • DNA Primers / genetics
  • DNA, Mitochondrial / genetics*
  • Embryo, Mammalian / metabolism*
  • Female
  • Gene Frequency
  • Humans
  • Kearns-Sayre Syndrome / genetics*
  • Maternal Age
  • Oocytes / metabolism*
  • Polymerase Chain Reaction / methods
  • Pregnancy
  • Reproductive Techniques
  • Sequence Deletion*


  • DNA Primers
  • DNA, Mitochondrial