Identification in Portugal and Brazil of a mtDNA lineage containing a 9-bp triplication of the intergenic COII/tRNA(Lys) region

• Tipo: Artigo em Revista Científica Internacional
• Data: 1999

Autores

Alves Silva, J (Autor) Outra; Guimaraes, PEM (Autor) Outra; Rocha, J (Autor) FCUP; Pena, SDJ (Autor) Outra; Prado, VF (Autor) Outra

Revista

Título: Human Heredity

Vol. 49

Páginas: 56-58

ISSN: 0001-5652

Editora: Karger

Indexação

ISI Web of Knowledge - 6 Citações

Scopus - 10 Citações

Classificação Científica

FOS: Ciências exactas e naturais > Ciências da terra e ciências do ambiente

Outras Informações

ID Authenticus: P-001-5QP

DOI: 10.1159/000022842

Abstract (EN): Although the deletion of one of the 9-bp repeats in region V of mitochondrial DNA is very common in Asians, Asian-derived populations and Africans, the triplication of the 9-bp segment was described only a few times, mostly on individuals from Asian origin. Here, we report for the first time the presence of the 9-bp triplication in Europeans. The triplication was initially found in one Brazilian individual. Sequencing of the hypervariable segments I (HVS1) and II (HVS2) of the control region and RFLP analysis of the coding region classified the mtDNA as belonging to the European haplogroup H. Since white Brazilians are predominantly of Portuguese descent, we screened 96 unrelated Northern Portuguese for the 9-bp triplication and found its presence in two of them (2.1 %), One of these had an mtDNA haplotype identical to that of the Brazilian individual, while the other differed in a single base change in HVS2, The fact that the 9-bp triplication has reached polymorphic frequencies in Northern Portugal and that it has apparently differentiated into at least two lineages defined by the mutation in HVS2 suggests that it probably occured a long time ago.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 3