Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Linkage Biosciences Debuts New HLA Assays, Pursues Clinical PGx Apps
Linkage Biosciences today released a trio of new tests based as part of its LinkSeq HLA product, including assays for HLA-DQ, HLA-B5701, and a genetic marker for celiac disease.
The real-time PCR-based assays come one year after the San Francisco-based company began marketing its assays to the transplant and immunogenetics communities. It was at this time that the firm debuted its LinkSeq technology, which combines PCR amplification and fluorescence detection.
According to David Senitzer, director of the Histocompatibility Laboratory at the City of Hope Cancer Center in Duarte, Calif., his techs have been using LinkSeq since last spring "and we are pleased with the results. We get results more quickly and this is an important point for us."
In a statement, Linkage CEO Zachary Antovich said "customers were asking for an HLA-DQ test" and were "telling us they needed to type both alpha and beta subunits."
Separately, a couple of the new tests may have pharmacogenetic applications, according to Linkage. For instance, B5701 testing "is required to screen HIV patients" to avoid adverse reactions with GlaxoSmithKline's antiretroviral Ziagen, Likewise, the B5701 biomarker is associated with liver injury caused by the antibiotic flucloxicillin.
In addition, the HLA-DQ marker is linked with a higher risk of adverse reactions with Novartis' COX-2 inhibitor lumiracoxib, which was never been approved in the US due to hepatotoxicity. (The drug is still sold in few countries, including Mexico, Ecuador, and the Dominican Republic under the trade name Prexige.)
In the statement, Linkage said it is "exploring companion diagnostic products in various areas."
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