Allele Frequencies of Y-Chromosome STR Loci DYS385 and DYS392 in Three Eastern Spanish Populations

Abstract

Abstract Blood samples were collected from healthy autochthonous unre- 2. lated males from Valencia and the islands of Majorca and Minorca (Spain). DNA was extracted by means of a standard phenol/ cloroform DNA protocol (1). Coamplification of the loci DYS385 and DYS392 was performed in a duplex reaction, using approximately 20 ng of genomic DNA in a total reaction volume of 25 µL. The primers used are described in Kayser et al. (2) and de Knijff et al. (3). PCR cycling conditions were as described in Furedi et al. (4), with minor modifications. A GeneAmp PCR System 2400 (PE Applied Biosystems) was used for amplification. Detection of the amplified products was carried out using an ABI 310 automatic sequencer (Perkin-Elmer) along with the GENESCAN 2.1 Analysis software. Our own allele ladders were used for allele designations. Allele nomenclature was as proposed by Kayser et al. (2) and de Knijff et 8. al. (3). Gene diversity was estimated according to Nei (5). Allele frequencies, as well as pairwise analysis, were calculated using the ARLEQUIN package (6). Data on Iberian populations were used for comparisons (7-11). DYS392 gene diversities (0.448-0.640) were within the range of those observed in the other Y-chromosome STRs studied in these samples (12), whereas DYS385 had the highest gene diversities (0.615-0.755). Comparisons between all of the three populations studied showed no significant differences. When comparisons were carried out with other Iberian populations, significant differences were observed at DYS385. With respect to Catalonia and Andalusia, we found differences at DYS392.