title: The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence.
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.
authors.affiliation: Departament de Medicina, Hospital Clínic i Provincial i Universitat de Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Barrientos
authors.forename: J
authors.initials: J
authors.lastname: Casademont
authors.forename: A
authors.initials: A
authors.lastname: Solans
authors.forename: P
authors.initials: P
authors.lastname: Moral
authors.forename: F
authors.initials: F
authors.lastname: Cardellach
authors.forename: A
authors.initials: A
authors.lastname: Urbano-Márquez
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: V
authors.initials: V
authors.lastname: Nunes
mesh_terms: D000883:Anthropology / Q000379:methods; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016296:Mutagenesis; D044469:Racial Groups / Q000235:genetics; D017384:Sequence Deletion; D013030:Spain; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers