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

Emmanuel S. Antonarakis, Julian R. Sampson, Jeremy P. Cheadle

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)161-164
Number of pages4
JournalJournal of Biochemical and Biophysical Methods
Volume51
Issue number2
DOIs
StatePublished - Apr 18 2002
Externally publishedYes

Keywords

  • DHPLC
  • Mosaicism
  • TSC2
  • Temperature modulation

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry

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