Abstract
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.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Forensic Science International: GeneticsAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- mtDNA profile of West Africa Guineans: towards a better understanding of the Senegambia region.Ann. Hum. Genet. 2004; 68: 340-352
- Y-chromosomal diversity in the population of Guinea-Bissau: a multiethnic perspective.BMC Evol. Biol. 2007; 7: 124
- Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material.Biotechniques. 1991; 10: 506-513
- Digging deeper into East African human Y chromosome lineages.Hum. Genet. 2010; 127: 603-613
- New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree.Genome Res. 2008; 18: 830-838
- Validation of mitochondrial DNA sequencing for forensic casework.Int. J. Legal Med. 1995; 108: 68-74
- mtDNA manager: a Web-based tool for the management and quality analysis of mitochondrial DNA control region sequences.BMC Bioinform. 2008; 9: 483
- Update comprehensive phylogenetic tree of global human mitochondrial DNA variation.Hum. Mutat. 2009; 30: e386-e394
- The genetics legacy of western Bantu migrations.Hum. Genet. 2005; 117: 366-375
- The making of the African mtDNA landscape.Am. J. Hum. Genet. 2002; 71: 1082-1111
- Chromosome Y STRs analysis and evolutionary aspects for Portuguese spoken countries.in: Sensabaugh G. Lincoln P.J. Olaisen B. Progress in Forensic Genetics 8. Elsevier Science B.V., 2000: 272-274
Article info
Publication history
Published online: November 08, 2010
Identification
Copyright
© 2010 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
ScienceDirect
Access this article on ScienceDirectRelated Articles
- Development and validation of YARN: A novel SE-400 MPS kit for East Asian paternal lineage analysisForensic Science International: GeneticsMarch 5, 2024
- PreviewY-chromosomal short tandem repeat polymorphisms (Y-STRs) and Y-chromosomal single nucleotide polymorphisms (Y-SNPs) are valuable genetic markers used in paternal lineage identification and population genetics. Currently, there is a lack of an effective panel that integrates Y-STRs and Y-SNPs for studying paternal lineages, particularly in East Asian populations. Hence, we developed a novel Y-chromosomal targeted panel called YARN (Y-chromosome Ancestry and Region Network) based on multiplex PCR and a single-end 400 massive parallel sequencing (MPS) strategy, consisting of 44 patrilineage Y-STRs and 260 evolutionary Y-SNPs.
- Full-Text
- Preview
- Genetic characterization of Guinea-Bissau using a 12 X-chromosomal STR system: Inferences from a multiethnic populationForensic Science International: GeneticsAugust 22, 2017
- PreviewThe X chromosome has distinct genetic features when compared to the autosomes and to the Y-chromosome. X chromosome STRs are hemizygous in males, thus behaving as a haplotype such as the Y chromosome, but in females they resemble autosomes due to recombination. Owing to the way in which it is inherited, the X chromosome is a rich resource of easily accessible genetic data, and therefore provides a unique tool for population-genetic studies [1]. X-STRs seem to be more effective than autosomal markers in the identification of female traces in male contamination [2].
- Full-Text
- Preview
- Genetic structure and paternal admixture of the modern Chinese Zhuang population based on 37 Y-STRs and 233 Y-SNPsForensic Science International: GeneticsFebruary 22, 2022
- PreviewThe Zhuang are the largest minority group in China and the aboriginal people of the Guangxi Zhuang Autonomous Region. Over thousands of years, the gene pool of the Zhuang has been shaped by the genetic admixture with the Han Chinese. However, little is known about the paternal genetic structure of the modern Zhuang people. Here, we used a high-resolution panel comprising 233 Y-chromosomal single-nucleotide polymorphisms (Y-SNPs) and 37 Y-chromosomal short tandem repeats (Y-STRs) to illuminate the paternal genetic structure and affinities of the Zhuang population.
- Full-Text
- Preview
- Paternal and maternal mutations in X-STRs: A GHEP-ISFG collaborative studyForensic Science International: GeneticsFebruary 5, 2020
- Paternal genetic structure of the Qiang ethnic group in China revealed by high-resolution Y-chromosome STRs and SNPsForensic Science International: GeneticsSeptember 13, 2022
- PreviewThe Qiang population mainly lived in Beichuan Qiang Autonomous County of Sichuan Province. It is one of the nomads in China, distributed along the Minjiang River. The Qiang population was assumed to have great affinity with the Han, the largest ethnic group in China, when it refers to the genetic origin. Whereas, it is deeply understudied, especially from the Y chromosome. Here in this study, we used validated high-resolution Y-chromosome single nucleotide polymorphisms (Y-SNPs) and short tandem repeats (Y-STRs) panels to study the Qiang ethnic group to unravel their paternal genetic, forensic and phylogenetic characteristics.
- Full-Text
- Preview
