Resumen de Genetic structure of the Azorean Populations (Portugal): results of a study Using the STR Systems CD4 and h TPO

C. Silva, M. Lima, C. Alves, P. Castro Oliveira, A. Amorim

• The Azores were inhabited when the Portuguese first discovered them in 1432. The first groups of settlers came from various regions of the Portuguese Mainland; people of different nationalities alsomade up part of the early settlers. The specific contribution of these settlers to each of the nine Azorean islands is not clear, due to the lack of both historícal and genetic data. Therefore, the genetic structure of the Azorean populations is scarcely documented. To improve the genetic profiling of the Azorean populations a study was carried out on a random sample of unrelated individuals from S. Miguel Island, using the Short Tandem Repeat (STR) systems CD4 and hTPO. The 97 individuals studied for CD4 (a pentameric repeat) presented 9 alleles combined in 12 different genotypes with 5/10 being the most frequent one (29%). For the hTPO system (a tetrameric STR), seven alleles and 13 different allelic combinations were idencified in the 87 individuals typed so far. The most frequent genotype was 8/11 (33%). The observed genotype distribution for both systems was tested for the Hardy-Weinberg equilibrium. For the hTPO system, heterogencity was detected between Portuguese samples (the sample studied here and a sample from Northern Portugal). The implications of such finding are discussed.