The non-recombining nature of the Y chromosome and the well-established phylogeny of Y-specific Single Nucleotide Polymorphisms (Y-SNPs) make them useful for defining haplogroups with high geographical specificity; therefore, they are more apt than the Y-STRs to detect population stratification in admixed populations from diverse continental origins. Different Y-SNP typing strategies have been described to address issues of population history and movements within geographic territories of interest. In this study, we investigated a set of 41 Y-SNPs in 1217 unrelated males from the five Brazilian geopolitical regions, aiming to disclose the genetic structure of male lineages in the country. A population comparison based on pairwise FST genetic distances did not reveal statistically significant differences in haplogroup frequency distributions among populations from the different regions. The genetic differences observed among regions were, however, consistent with the colonization history of the country. The sample from the Northern region presented the highest Native American ancestry (8.4%), whereas the more pronounced African contribution could be observed in the Northeastern population (15.1%). The Central-Western and Southern samples showed the higher European contributions (95.7% and 93.6%, respectively). The Southeastern region presented significant European (86.1%) and African (12.0%) contributions. The subtyping of the most frequent European lineage in Brazil (R1b1a-M269) allowed differences in the genetic European background of the five Brazilian regions to be investigated for the first time.

Insertion/deletion (INDEL) polymorphisms are diallelic markers with potential characteristics for use in forensics and biological anthropology, including: the simplicity of laboratory analysis, the possibility of genotyping many markers in a single PCR multiplex reaction, as well as analyzing markers with special inheritance types, such as those linked to the X chromosome (X-INDEL). In this work we developed a laboratory analysis methodology using a 33-INDEL marker panel for the X chromosome in a single PCR multiplex reaction, followed by a capillary electrophoresis run. We employed the panel to genotype a sample of 351 individuals of a mixed population from the Brazilian Amazon. The results demonstrate that the measurement of biostatistical parameters for forensic use in this population is compatible with prior estimates from other populations using current X-STR panels.

Background People who use illicit drugs (PWUDs) have a high risk of viral infections. To date, there is a paucity of information on HIV infection among PWUDs in remote Brazilian regions. This study determined the prevalence and factors associated with HIV-1 infection among PWUDs in northern Brazil. Methods Sociodemographic, economic, drug use and health-related information were collected through interviews from a community-recruited, multi-site sample of 1753 PWUDs. The blood samples collected were tested for the presence of HIV-1 using chemiluminescence immunoassay and PCR or western blotting. Logistic regressions identified factors independently associated with HIV-1 infection. Results In total, 266 (15.2%) PWUDs were HIV-1 positive. Hepatitis B virus and/or hepatitis C virus nucleic acid was detected in 65 (3.7%) PWUDs infected by HIV-1. The factors associated with HIV-1 infection were male gender, older age, a lower educational level and a lower income, crack cocaine use, a longer drug use history and a history of drug injection and engagement in unsafe sex, sex work and a higher number of sexual partners. Conclusions The current study provides unique, initial insights into HIV and co-infection status and pertinent risk factors among PWUDs in northern Brazil, with clear and diverse implications for urgently improved prevention and treatment intervention needs.

The estimates obtained are compatible with expectations for a colonization model with biased admixture between European men (one X chromosome) and Native American and African women (two X chromosomes), so the 24 X-INDEL panel described here can be a useful to make admixture interethnic estimates in Brazilian populations.