The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence

A. Barrientos, J. Casademont, A. Solans, P. Moral, F. Cardellach, A. Urbano-Márquez, X. Estivill, V. Nunes

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17 Scopus citations


A deletion of one of the two copies of a 9-bp direct repeat sequence (CCCCCTCTA) in region V of mitochondrial DNA has previously been used as a polymorphic anthropological marker for people of east Asian origin, and to a lesser extent, in Oceanian and African populations. We report the presence of the 9-bp deletion in homoplasmy in skeletal muscle fibers and lymphocytes of a Spanish Caucasian individual. Other mitochondrial DNA polymorphisms associated with the 9-bp deletion characteristic of other populations were not present. Our results suggest that the 9-bp deletion probably originated independently in the maternal lineage of the propositus, and that it can thus be described as a recurrent mutation.

Original languageEnglish (US)
Pages (from-to)225-228
Number of pages4
JournalHuman genetics
Issue number2
StatePublished - Aug 1995
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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