Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2.

Abstract

Somatic mosaicism is a frequent phenomenon in Mendelian disorders that exhibit a high proportion of new mutations. However, mutant alleles present at low frequency may escape detection. We have previously shown that denaturing high-performance liquid chromatography (DHPLC) at the recommended melt temperature can detect TSC1 and TSC2 mutations in tuberous sclerosis patients with low-level somatic mosaicism, even when direct sequencing cannot identify the causative lesion. Here, we report the use of temperature modulation in DHPLC analysis to facilitate the robust detection of a mosaic mutation, N1643K, in the presence of a coexisting constitutional polymorphism.

Cite this paper

@article{Antonarakis2002TemperatureMO, title={Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2.}, author={Emmanuel S. Antonarakis and Julian R. Sampson and Jeremy P. Cheadle}, journal={Journal of biochemical and biophysical methods}, year={2002}, volume={51 2}, pages={161-4} }