Articles Related to SNP

According to the UNAIDS 2022 report, 52% of the HIV positive children between 0-14 years were able to access treatment and of these 68% attain viral suppression. CCR5 promoter genotype specifically single nucleotide polymorphisms have been linked to modulate patient virological status. However, the few studies that have studied the association in infants have utilized allele-specific PCR a genotypic method limited to detecting already known SNPs. By using Sanger sequencing, we explored the association taking into account novel mutations.

View complete article: PDF  |  Full-text

Somatic, inactivating PIGA mutations in haematopoietic stem cells, followed by an unknown autoimmune selection process in favor of the mutated clone, are thought to be important events in the pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH). Recently, a second clonal event involving the HMGA2 gene was reported in some PNH cases, and over expression of this gene was postulated to promote proliferation of the mutated clone.

View complete article: PDF  |  Full-text

Aspergillus infection in an immunocompetent human host is a rare entity. In most cases it presents as an opportunistic pathogen in immunocompromised patients. The portal of entry is usually the respiratory tract or direct inoculation of the organism to the site. Aspergillus osteomyelitis is a debilitating and severe form of Invasive Aspergillosis.

View complete article: PDF  |  Full-text

The DNA mismatch repair (MMR) system is necessary for the maintenance of genomic stability. The MMR system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops (IDLs) and heterologies generated during DNA replication and recombination.

View complete article: PDF  |  Full-text