The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence |
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| Authors: | A. Barrientos J. Casademont A. Solans P. Moral F. Cardellach A. Urbano-Márquez X. Estivill V. Nunes |
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| Affiliation: | (1) Grup d'Investigació Muscular, Departament de Medicina, Hospital Clínic i Provincial i Universitat de Barcelona, Villarroel 170, 08036 Barcelona, Spain;(2) Departament de Genètica Molecular, Institut de Recerca Oncològica (IRO), Autovia de Castelldefels, Km 2.7, 08907, Hospitalet del Llobregat, Barcelona, Spain;(3) Unitat d'Antropologia, Departament de Biologia Animal, Fac. Biologia, Univ. Barcelona, Av Diagonal 645, Barcelona, Spain |
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| 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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