Assessment of Azorean ancestry by Alu insertion polymorphisms
Bibliographic Data
| ID | 21120995 |
|---|---|
| Authors | Claudia C Branco (0000-0002-7028-4657, Hospital do Divino Espírito Santo), Raquel Palla, Palla Raquel (Hospital do Divino Espírito Santo), Sílvia Lino, Sílvia P P Lino (0000-0002-7384-5608, Hospital do Divino Espírito Santo), Paula Pacheco (Hospital do Divino Espírito Santo), Paula R Pacheco, Rita Cabral (0000-0002-0545-498X, Instituto Gulbenkian de Ciência), Laura De Fez, Bernardo R Peixoto (Hospital do Divino Espírito Santo), Luisa Mota-Vieira, Luisa Mota‐vieira (0000-0003-1451-6705, Hospital do Divino Espírito Santo, corresponding author) |
| Year | 2006 |
| Volume | 18 |
| Issue | 2 |
| Pages | 223-226 |
| Publication date | 2006-03-01 |
| Peer Reviewed | Yes |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | American Journal of Human Biology (JOURNAL) |
| Journal identifiers | ISSN: 1042-0533 • E-ISSN: 1520-6300 |
| Publisher | Wiley (PUBLISHER • GB) |
| DOI | 10.1002/ajhb.20492 |
| PMID | 16493635 |
| OpenAlex | W2008237167 |
| Language | EN |
| Citations received | 7 |
| References cited | 7 |
Knowledge of population ancestry from genetic markers is essential, for example, to understand the history of human migration and to carry out admixture and association studies. Here we assess the genome ancestry of the Azorean population through analysis of six Alu polymorphic sites (TPA-25, ACE, APO, B65, PV92, and D1) in 65 Azoreans and 30 Portuguese unrelated blood donors and compare data for the Y-chromosome and mtDNA. Allele frequencies were calculated by direct counting. Statistical analysis was performed using Arlequin 2.0. Nei's genetic distance was calculated with DISPAN software, and trees were constructed by neighbor joining (NJ) using PHYLIP 3.63. The results show that all Alu insertions were polymorphic. APO is the closest to fixation. The less frequent insertions are PV92 and D1 in the Azores and Portugal, respectively. ACE and TPA-25 show the highest values of heterozygosity in both populations. Allele frequencies are very similar to those obtained in European populations. These results are validated by the Y-chromosome and mtDNA data, where the majority of the maternal and paternal lineages are European. Overall, these data are reflected in the phylogenetic tree, in which the Azoreans and the Portuguese branch with Catalans, Andalusians, Moroccans, and Algerians. We conclude that the population of the Azores shows no significant genetic differences from that of mainland Portugal and that it is an outbred population. Moreover, the data validate the use of Alu insertion polymorphisms to assess the origin and history of human populations
1000 Genomes Project · Allele · Alu element · Biology · Evolutionary biology · Gene · Genetic distance · Genetic variation · Genome · Genotype · Haplogroup · Haplotype · Human genome · Phylogenetic tree · Population · Single-nucleotide polymorphism · Demography · Forensic and Genetic Research · Genetic diversity and population structure · Genomics and Phylogenetic Studies · Genetics
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| Unique citing works | 7 |
|---|---|
| Citations per year | 0,37 |
| Citation span | 2007 - 2014 (8) |
| Citation velocity | historical |
| Highly cited | No |
| Citation types | Neutral: 7 |