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60,000 years of interactions between Central and Eastern Africa documented by m...

Silva, M; Alshamali, F; Silva, P; Carrilho, C; Mandlate, F; Trovoada, MJ; Cerny, V; Pereira, L; Soares, P

Mitochondrial DNA (mtDNA) haplogroup L2 originated in Western Africa but is nowadays spread across the entire continent. L2 movements were previously postulated to be related to the Bantu expansion, but L2 expansions eastwards probably occurred much earlier. By reconstructing the phylogeny of L2 (44 new complete sequences) we provide insights on the complex net of within-African migrations in the last 60 thousa...


Pattern of mtDNA variation in three populations from São Tomé e Príncipe

Trovoada, MJ; Pereira, L; Gusmão, L; Abade, A; Amorim, A; Prata, MJ

We have analysed the matrilineal genetic composition of three self-reported ethnic groups from São Tomé e Príncipe (Gulf of Guinea), an African archipelago whose settlement begun in the late fifteenth century. Sequence data from the hypervariable segments I (HVS-I) and II (HVS-II) were obtained for 30 Angolares, 35 Forros and 38 Tongas. The repertory of mtDNA lineages in São Tomé e Príncipe denoted a fully Afri...


Variation in STR loci of the human myelin basic protein gene: North Portugal an...

Pereira, L; Gusmão, L; Prata, MJ; Mota, P; Trovoada, MJ; Amorim, A

Allele frequencies and a single-base substitution polymorphism for 3 short tandem repeat (STR) loci of the human myelin basic protein (MBP) gene were evaluated in North Portugal and São Tomé e Príncipe. Strong linkage disequilibrium between loci MBPB and MBPC was found. However, the patterns of nonrandom allelic associations were very different in the 2 populations: levels of haplotypic diversity and heterozygo...


Detection of additional structural variation at the FES/FPS system and populati...

Pereira, L; Gusmão, L; Prata, MJ; Mota, P; Trovoada, MJ; Amorim, A

Comparative analysis of heteroduplex patterns on the STR FES/FPS system led to the detection of a new non-consensus allele 10 in the African population of São Tomé e Príncipe. Automated sequencing confirmed a T-->C substitution at position 177 (1stT of the 6th repeat) which was exclusively found in haplotypic combination with base A in the previously described polymorphic position 34. The new substitution was n...


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