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

Antonarakis, Emmanuel S., Sampson, Julian Roy and Cheadle, Jeremy Peter 2002. Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2. Journal of Biochemical and Biophysical Methods 51 (2) , pp. 161-164. 10.1016/S0165-022X(02)00011-8

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	DHPLC; TSC2; temperature modulation; mosaicism.
Publisher:	Elsevier
ISSN:	0165-022X
Last Modified:	10 Oct 2017 15:43
URI:	https://orca.cardiff.ac.uk/id/eprint/60295

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