The Africa male lineages of Bahia's people—Northeast Brazil: A preliminary SNPs study

Abstract The non-recombining portion of the human Y (NRY) chromosome has various types of variation, including single nucleotide polymorphism (SNP) variation. The study of this specific region can be helpful in forensics, since Y haplogroups show regional specificity, providing useful information about geographic origin of an individual or evidence under investigation. In this study, single nucleotide polymorphisms (SNPs) located on the Y chromosome specific region (M96, M2, M35, M78, M81, M123, M34, M201, M170, M304, M26 and M172) were used to characterize a population sample of 100 males from Bahia, in order to investigate the frequency distribution of the male lineages. These SNPs were selected from the set of 24 SNPs that determine the 11 frequent haplogroups present in Brazilian population. Genotyping was made using SNaPshot kit (Applied Biosystems) in two multiplexes: one with five Y-SNPs (M304, M201, M170, M26 and M172) and another with seven Y-SNPs (M34, M35, M2, M78, M96, M123 and M81). The results validation was done using the software GeneMapper v3.2 (Applied Biosystems). The Y chromosomes not characterized by the SNP set tested (48.0%) were assigned ABCDF(xG,I,J) and will be analyzed with additional markers set. The most frequent haplogroup identified was E1b1a*-M2 (19.0%), followed by J2*-M172 (7.0%), E1b1b1a*-M78 (5.00%), G*-M201 (5.00%), I*(xI2a2)-M170 (4.0%), J*(XJ2)-M304 (4.00%), E1b1b1c1-M34 (3.0%), I2a2*-M26 (3.00%), E*(xE1b1a-b)-M96 (1.0%) and E1b1b1b*-M81 (1.0%). The DNA fragments amplified by PCR showed that the extracted DNA had good amplification.