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

• Type: Article in International Scientific Journal
• Date: 1999

Authors

Alves Silva, J (Author) Other; Guimaraes, PEM (Author) Other; Rocha, J (Author) FCUP; Pena, SDJ (Author) Other; Prado, VF (Author) Other

Journal

Title: Human Heredity

Vol. 49

Pages: 56-58

ISSN: 0001-5652

Publisher: Karger

Indexing

ISI Web of Knowledge - 6 Citations

Scopus - 10 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3