Human DNA bank in Sao Miguel Island (Azores): A resource for genetic diversity studies

摘要

The peopling of Sao Miguel Island in the 15th century was made by Portuguese and settlers of foreign origin (Flemish, Jews, Moorish prisoners and black slaves), generating an admixture signature. Thus, to unravel Sao Miguel's population genetic background and to characterize its population's polymorphisms, we decided to establish a human DNA bank. Here, we describe the construction of the DNA bank and analyse the information of 997 samples obtained from healthy blood donors. The bank follows the international ethical guidelines, which include informed consent, confidentiality, anonymity of personal dat,And abandonment in case of expressed will DNA was isolated from blood samples, coded and immediately stored in a locked refrigerator. The identifiable DNA bank has selfnreported data concerning sex, age, birth, current place of living, and parental birthplaces. The samples are representative of all the island's municipalities (r=0 995, p<0 01) The majority (87%) of the participants is male, with mean age of 36 3 years (18-64 years) Birthplace analysis reveals that 902 (90%) have both parents born in Sao Miguel. Moreover, 477 (54%) have their parents born in the same locality, confirming a relatively high rate of consanguinity in rural area. To date, this DNA bank was used to assess the Y-chromosome phylogeny and diversity in Azorean population Now, we are analysing autosomal STRs for the better understanding of the gene pool and genetic structure of the archipelago's people.