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, Xavier P. Estivill, V. Nunes

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

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
Pages (from-to)225-228
Number of pages4
JournalHuman Genetics
Volume96
Issue number2
DOIs
Publication statusPublished - Aug 1995
Externally publishedYes

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Mitochondrial DNA
Recurrence
Mutation
Anthropology
Nucleic Acid Repetitive Sequences
Skeletal Muscle Fibers
Population Characteristics
Mothers
Lymphocytes
Population

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Barrientos, A., Casademont, J., Solans, A., Moral, P., Cardellach, F., Urbano-Márquez, A., ... Nunes, V. (1995). The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence. Human Genetics, 96(2), 225-228. https://doi.org/10.1007/BF00207385

The 9-bp deletion in region V of mitochondrial DNA : evidence of mutation recurrence. / Barrientos, A.; Casademont, J.; Solans, A.; Moral, P.; Cardellach, F.; Urbano-Márquez, A.; Estivill, Xavier P.; Nunes, V.

In: Human Genetics, Vol. 96, No. 2, 08.1995, p. 225-228.

Research output: Contribution to journalArticle

Barrientos, A, Casademont, J, Solans, A, Moral, P, Cardellach, F, Urbano-Márquez, A, Estivill, XP & Nunes, V 1995, 'The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence', Human Genetics, vol. 96, no. 2, pp. 225-228. https://doi.org/10.1007/BF00207385
Barrientos A, Casademont J, Solans A, Moral P, Cardellach F, Urbano-Márquez A et al. The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence. Human Genetics. 1995 Aug;96(2):225-228. https://doi.org/10.1007/BF00207385
Barrientos, A. ; Casademont, J. ; Solans, A. ; Moral, P. ; Cardellach, F. ; Urbano-Márquez, A. ; Estivill, Xavier P. ; Nunes, V. / The 9-bp deletion in region V of mitochondrial DNA : evidence of mutation recurrence. In: Human Genetics. 1995 ; Vol. 96, No. 2. pp. 225-228.
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