Genetic characterization of paternal lineages by Y-STR in three sample populations in Northeastern Brazil.

Genetic markers of the Y chromosome are powerful tools for investigating paternal ancestry and are widely used in population and forensic genetics. However, in order to obtain statistics with a higher degree of certainty using these markers, it is necessary to obtain haplotypic frequencies from a representative database, as well as knowing the diversity and structure of the population. The aim of this study was to investigate the genetic diversity of a sample of 1114 unrelated men from three states in the Northeast of Brazil: Paraíba, Pernambuco and Ceará, through the analysis of 23 Y-STRs and to contribute to the expansion of the Brazilian database on these markers.

Evaluation of SARS-CoV-2 ORF7a Deletions from COVID-19-Positive Individuals and Its Impact on Virus Spread in Cell Culture.

The spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), causing the COVID-19 outbreak, posed a primary concern of public health worldwide. The most common changes in SARS-CoV-2 are single nucleotide substitutions, also reported insertions and deletions. This work investigates the presence of SARS-CoV-2 ORF7a deletions identified in COVID-19-positive individuals.

Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.

The melanocortin-1 receptor (MC1R) is one of the key proteins involved in the regulation of melanin production and several polymorphisms have been associated with different phenotypes of skin and hair color in human and nonhuman species. Most of the knowledge is centered on more homogeneous populations and studies involving an admixed group of people should be encouraged due to the great importance of understanding the human color variation. This work evaluates the MC1R diversity and the possible impacts of MC1R variants in an admixed sample population of Rio de Janeiro, Brazil, which is a product of Native American, African, and European miscegenation.

Frequency distribution of HCV resistance-associated variants in infected patients treated with direct-acting antivirals.

Background: Hepatitis C virus (HCV) is a global public health problem. Second-generation direct-acting antivirals targeting non-structural regions on the viral genome are the cornerstone for treatment of chronic infection. However, resistance-associated variants (RAVs) have been reported to be associated with therapeutic failure.

Association of whole mtDNA, an NADPH G11914A variant, and haplogroups with high physical performance in an elite military troop.

Physical performance is a multifactorial and complex trait influenced by environmental and hereditary factors. Environmental factors alone have been insufficient to characterize all outstanding phenotypes. Recent advances in genomic technologies have enabled the investigation of whole nuclear and mitochondrial genome sequences, increasing our ability to understand interindividual variability in physical performance.