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

J Biochem Biophys Methods. 2002 Apr 18;51(2):161-4. doi: 10.1016/s0165-022x(02)00011-8.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Chromatography, High Pressure Liquid / methods*
  • DNA / metabolism
  • Humans
  • Leukocytes / metabolism
  • Mutation
  • Polymorphism, Genetic
  • Proteins / chemistry*
  • Proteins / genetics
  • Repressor Proteins / chemistry*
  • Repressor Proteins / genetics
  • Temperature
  • Time Factors
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

Substances

  • Proteins
  • Repressor Proteins
  • TSC1 protein, human
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins
  • DNA