title: HLA genes in Madeira Island (Portugal) inferred from sequence-based typing: footprints from different origins.
abstract: Human leukocyte antigen (HLA)-A, HLA-B, and HLA-DRB1 polymorphisms were examined in Madeira Island populations. The data was obtained at high-resolution level, using sequence-based typing (SBT). The most frequent alleles at each loci were: A*020101 (24.6%), B*5101 (9.7%), B*440201 (9.2%), and DRB1*070101 (15.7%). The predominant three-loci haplotypes in Madeira were A*020101-B*510101-DRB1*130101 (2.7%) and A*010101-B*0801-DRB1*030101 (2.4%), previously found in north and central Portugal. The present study corroborates historical sources and other genetic studies that say Madeira were populated not only by Europeans, mostly Portuguese, but also sub-Saharan Africans due to slave trade. Comparison with other populations shows that Madeira experienced a stronger African influence due to slave trade than Portugal mainland and even the Azores archipelago. Despite this African genetic input, haplotype and allele frequencies were predominantly from European origin, mostly common to mainland Portugal.
authors.affiliation: Human Genetics Laboratory, University of Madeira, Campus of Penteada, 9000-399 Funchal, Portugal.
authors.forename: Hélder
authors.initials: H
authors.lastname: Spínola
authors.forename: Jácome
authors.initials: J
authors.lastname: Bruges-Armas
authors.forename: Marian Gantes
authors.initials: MG
authors.lastname: Mora
authors.forename: Derek
authors.initials: D
authors.lastname: Middleton
authors.forename: António
authors.initials: A
authors.lastname: Brehm
mesh_terms: D005787:Gene Frequency; D006680:HLA Antigens / Q000235:genetics*; D006239:Haplotypes; D006650:Histocompatibility Testing; D006801:Humans; D011110:Polymorphism, Genetic; D011174:Portugal
chemical_list: D006680:HLA Antigens