Researchers from Oviedo, Spain, report having resequenced large fragments of the MYH7 gene in samples from 60 hypertrophic cardiomyopathy patients who did not have previously identified sarcomere mutations. Among the rare intronic variants the researchers identified is an intron 26 single nucleotide insertion that they predict may affect pre-mRNA splicing, though they note that allele frequencies did not differ between patients and controls. Writing in The Journal of Molecular Diagnostics, the researchers say that changes in the promoter region of MYH7 "could be linked to the risk of developing HCM [hypertrophic cardiomyopathy]."
In another paper published online in advance this week, investigators at Virginia Commonwealth University evaluate two approaches for PCR-based detection of FMR1 mutations using commercially available reagents. The Virginia Commonwealth team put an approach using reagents from Asuragen up against another using those from Abbott Molecular, finding that both performed equally well in accuracy and precision studies. "The Asuragen reagents were able to detect full mutation mosaicism down to 5 percent and premutation mosaicism to 1percent," the authors write. "The Abbott Molecular Primer 2 reagents were able to detect both full mutation and pre-mutation mosaicism down to 25 percent." Overall, the researchers add that "both PCR-based methods for the determination of FMR1 mutation status performed well, with expected results in their final diagnoses, and differed significantly only in their workflow."
Also in The Journal of Molecular Diagnostics, the Cleveland Clinic's Raymond Tubbs and his colleagues discuss the role of fluorescence in situ hybridization in the diagnosis of BK viral nephropathy in renal allograft biopsy. "Use of FISH for BK virus detection in the setting of renal allograft biopsy is a useful and sensitive detection method and could be adopted in any laboratory that currently performs FISH analysis," Tubbs et al write.