Open AccessA Fast, Highly Sensitive and Cheap Tool for Mutation Analysis of Complex Genes
Author(s) -
Norbert Arnold,
Eva Groß,
Ulrike SchwarzBoeger,
Jacobus Pfisterer,
W. Jonat,
Marion Kiechle
Publication year - 1999
Publication title -
disease markers
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.912
H-Index - 66
eISSN - 1875-8630
pISSN - 0278-0240
DOI - 10.1155/1999/473180
Subject(s) - denaturing high performance liquid chromatography , gene , genetics , exon , coding region , biology , intron , mutation testing , mutation , sequence analysis , sequence (biology) , dna sequencing , computational biology
The mutation analysis of complex genes without hot spots for sequence variation is very time consuming and expensive. The aim of our study was to introduce the Denaturing highperformance liquid chromatography (DHPLC) technique into the repertoire of scanning methods for DNA mutations and polymorphisms in the BRCA1 gene. To assess the accuracy of this screening method the analysis was done in parallel with direct sequencing. With 33 fragments we were able to screen the whole coding sequence and exon/intron boundaries of the BRCA1 gene. The comparison of the results revealed that with DHPLC none of the alterations detected by
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