Analysis of mitochondrial 12S rRNA gene sequence variation in four ethnically defined populations

Abstract

In this study, we have analysed the nucleotide sequence variation of the 12S rRNA mitochondrial gene (648–1601 bp) from five different populations (Spanish Caucasian, Autochthonous from the Basque Country, Chinese, New Guinea Highlander and Africans of Benin) by full sequencing of two overlapping PCR fragments using d-rhodamine cycle sequencing coupled with an ABI377 sequencer. Preliminary data indicate different patterns of sequence variation between Africans and non-Africans. Africans are much more polymorphic than non-African populations, which have only a very restricted subset of haplotypes. Furthermore, the greater part of Africans analysed showed two specific nucleotide substitutions (769G→A and 1018G→A) that were not observed in non-African individuals. In conclusion, the mtDNA 12SRNA gene in combination with other systems could be an interesting ethnic marker that could help to differentiate between African and non-African maternal lineages.