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

被引：15

作者：

Antonarakis, ES ^{[1
]}

Sampson, JR ^{[1
]}

Cheadle, JP ^{[1
]}

机构：

[1] Univ Wales Coll Cardiff, Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

来源：

JOURNAL OF BIOCHEMICAL AND BIOPHYSICAL METHODS | 2002年 / 51卷 / 02期

关键词：

DHPLC; TSC2; temperature modulation; mosaicism;

D O I：

10.1016/S0165-022X(02)00011-8

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

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. (C) 20021 Elsevier Science B.V All rights reserved.

引用

页码：161 / 164

页数：4

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