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.
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Barrientos, A., Casademont, J., Solans, A. et al. The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence. Hum Genet 96, 225–228 (1995). https://doi.org/10.1007/BF00207385
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DOI: https://doi.org/10.1007/BF00207385