Paternal and maternal lineages in Guinea-Bissau population.
The aim of the present work was to study the origin of paternal and maternal lineages in Guinea-Bissau population, inferred by phylogeographic analyses of mtDNA and Y chromosome defined haplogroups. To determine the male lineages present in Guinea-Bissau, 33 unrelated males were typed using a PCR-SNaPshot multiplex based method including 24 Y-SNPs, which characterize the main haplogroups in sub-Saharan Africa and Western Europe. In the same samples, 17 Y-STRs (included in the YFiler kit, Applied Biosystems) were additionally typed. The most frequent lineages observed were E1b1a (xE1b1a4,7)-M2 (68%) and E1a-M33 (15%). The European haplogroup R1b1-P25 was represented with a frequency of 12%. The two hypervariable mtDNA regions were sequenced in 79 unrelated individuals from Guinea-Bissau, and haplogroups were classified based on control region motifs using mtDNA manager. A high diversity of haplogroups was determined in our sample being the most frequent haplogroups characteristic of populations from sub-Saharan Africa, namely L2a1 (15%), L3d (13%), L2c (9%), L3e4 (9%), L0a1 (8%), L1b (6%) and L1c1 (6%). None of the typical European haplogroups (H, J and T) were found in the present sample of Guinea-Bissau. From our results, it is possible to confirm that Guinea-Bissau presents a typically West African profile, marked by a high frequency of the Y chromosome haplogroup E1b1a(xE1b1a4,7)-M2 and a high proportion of mtDNA lineages belonging to the sub-Saharan specific sub-clusters L1 to L3 (89%). A small European influx has been also detected, although restricted to the male lineages.
Forensic Genetics Service, Centre Branch, National Institute of Legal Medicine IP, Largo da Sé Nova, 3000-213 Coimbra, Portugal.
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Carvalho
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Brito
A M
AM
Bento
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V
Gomes
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Antunes
H Afonso
HA
Costa
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V
Lopes
A
A
Serra
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F
Balsa
L
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Andrade
M J
MJ
Anjos
F
F
Corte-Real
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Gusmão
D041322:Chromosomes, Human, Y; D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005828:Genetics, Population; D006169:Guinea-Bissau; D006239:Haplotypes; D006801:Humans; D008297:Male; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D020080:Tandem Repeat Sequences
D004272:DNA, Mitochondrial