Validation of fluorescence-labeled artificial nonhuman sequences for single-strand conformation polymorphism mutation detection in familial hypercholesterolemia

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Item Type:	Article
Title:	Validation of fluorescence-labeled artificial nonhuman sequences for single-strand conformation polymorphism mutation detection in familial hypercholesterolemia
Creators Name:	Aydin, A., Luft, F.C. and Bähring, S.
Abstract:	We developed a two-in-one, polymerase chain reaction (PCR)-based method with a specific amplification step and a universal amplification step in one tube to screen for the presence of DNA variations. The method relies on fluorescence-labeled artificial nonhuman sequences for mutation detection. To document utility, we applied this method as a high-throughput capillary single-strand conformation polymorphism screening system to identify 30 mutations in the low-density lipoprotein receptor gene. The sensitivity of mutant allele detection compared to wild-type allele detection was 93%. We conclude that the “two-in-one PCR“ is sensitive, simple, and cost effective.
Keywords:	LDL Receptor, Mutation Screening, Capillary Electrophoresis, Animals
Source:	Analytical Biochemistry
ISSN:	0003-2697
Publisher:	Academic Press
Volume:	324
Number:	1
Page Range:	16-21
Date:	1 January 2004
Official Publication:	https://doi.org/10.1016/j.ab.2003.09.006
PubMed:	View item in PubMed

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