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Analysis of Y-chromosome Variability and its Comparison with mtDNA Variability Reveals Different Demographic Histories Between Islands in the Azores Archipelago (Portugal)

2005/02/17 by Rafaél Montiel, Conceição Bettencourt, Carina Pires Vidal da Silva +3 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Forensic and Genetic Research #Genetic diversity and population structure #Race, Genetics, and Society #Haplogroup #Archipelago #Mitochondrial DNA #Human mitochondrial DNA haplogroup #Population #Geography #Biology #Mainland #Demography #Evolutionary biology #Genetics #Haplotype #Ecology #Allele

paper · pdf · doi:10.1046/j.1529-8817.2004.00146.x

openalex publication_date 2005/02/17 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/19

Abstract

We determined the Y-chromosomal composition of the population of the Azores Islands (Portugal), by analyzing 20 binary polymorphisms located in the non-recombining portion of the Y-chromosome (NRY), in 185 unrelated individuals from the three groups of islands forming the Archipelago (Eastern, Central and Western). Similar to that described for other Portuguese samples, the most frequent haplogroups were R1(xR1b3f) (55.1%), E(xE3a) (13%) and J (8.6%). Principal components analysis revealed a Western European profile for the Azorean population. No significant differences between Azores and mainland Portugal were observed. However, the haplogroup distribution across the three groups of islands was not similar (P<0.003). The Western group presented differences in the frequencies of haplogroups R1, E(xE3a) and I1b2 (27.3%, 22.7% and 13.6%, respectively) when compared to the other two groups. An assessment of the NRY variability, and its comparison with mitochondrial DNA (mtDNA) variability, was further evidence of the differential composition of males during the settlement of the three groups of islands, contrary to what has been previously deduced for the female settlers using mtDNA data.

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