Genetics and Molecular Biology
versão impressa ISSN 1415-4757
SOARES-VIEIRA, José A. et al. Population and mutation analysis of Y-STR loci in a sample from the city of São Paulo (Brazil). Genet. Mol. Biol. [online]. 2008, vol.31, n.3, pp. 651-656. ISSN 1415-4757. http://dx.doi.org/10.1590/S1415-47572008000400009.
The haplotypes of seven Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393) were determined in a sample of 634 healthy Brazilian males (190 adult individuals and 222 father-son pairs). The 412 adults were unrelated, and the 222 father-son pairs had their biological relationship confirmed using autosomal STRs (LR > 10,000). Among the 412 adults, a total of 264 different 7-loci haplotypes were identified, 210 of which were unique. The most frequent haplotype was detected in 31 instances, occurring with a frequency of 7.52%. The haplotype diversity index was calculated as 98.83%. Upon transmission of the 1,554 alleles, in 222 father-son pairs, six mutations were observed, with an average overall rate of 3.86 x 10-3 per locus. A haplotype with a duplicated DYS389I locus, and another with duplicated DYS389I, DYS389II, and DYS439 loci were detected in both fathers and their respective sons.
Palavras-chave : Y-STR population data; São Paulo (Brazil); mutation rates; duplications.