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(xR1...
To gain insights on the molecular mechanisms of mutation that led to the emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type alleles and testing the association of its distribution with the representation of the disease. Methods: The number of CAG motifs in the MJD gene was determined in a representative sample of 1000 unrelated individuals. Associations between the repeat size ...
The Azores islands (Portugal), uninhabited when discovered by Portuguese navigators in the fifteenth century, are located in the Atlantic Ocean 1500 km from the European mainland. The archipelago is formed by nine islands of volcanic origin that define three geographical groups: Eastern (S. Miguel and Sta. Maria), Central (Terceira, Faial, Pico, Graciosa and S. Jorge) and Western (Flores and Corvo). To improve ...
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