Sentence examples for mutational hotspots in from inspiring English sources

Specifically, polony technology was successfully applied to both detect intragenic mutations in well-defined mutational hotspots in key cancer genes as well as determine if loss of heterozygosity of these same genes had occurred.

Apart from aiding the detection of mutational hotspots in the gene, where novel mutations could be disease-implicated, this approach also provides a way to predict new disease mutations.

Consequently previous observations of mutational hotspots in the human genome, high mutation rates around classes of genes involved in extracellular communication, the low dN/dS observed in housekeeping genes and the clustering of genes with similar divergence levels can all also be associated with chromatin structure.

This conclusion was further supported by analysis of mutation spectra after removal of CpG dinucleotides, the most prominent mutational hotspots in the human genome [ 24, 25].

Although there are no real mutational hotspots in the DYSF gene, some exons contain more mutations than others and the skipping of these exons would thus be applicable to larger groups of patients (see Table 2).

A new compilation of 324 mutations in four major proteins from the complement alternative pathway reveals mutational hotspots in factor H and complement C3, and less so in factor I and membrane cofactor protein.

Since the recurrence of the c.833T>C mutation cannot be explained by any known mutational hotspot in the vicinity of c.833T, a different mutational mechanism should be considered.

The reported Gs-alpha mutations are scattered throughout the entire coding region, with one mutational hotspot in exon 7 (c.565_568delGaccountingnting for 17.8% of cases.

The mutational hotspot in FMF, however, is located in the C-terminal B30.2/rfp/SPRY domain, which modulates the inflammatory response through the interaction with several components of the inflammasome.

The R271W is the second most common mutational hotspot in the AIP gene.

We observed Lys103Met substitution in 50% of the cases, suggesting this location to be a mutational hotspot in our patient population.