Laser desorption mass spectrometry for point mutation detection

Genetic Analysis : Biomolecular Engineering
N I TaranenkoC H Chen

Abstract

A point mutation can be associated with the pathogenesis of inherited or acquired diseases. Laser desorption mass spectrometry coupled with allele specific polymerase chain reaction (PCR) was first used for point mutation detection. G551D is one of several mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene present in 1-3% of the mutant CFTR alleles in most European populations. In this work, two different approaches were pursued to detect G551D point mutation in the cystic fibrosis gene. The strategy is to amplify the desired region of DNA template by PCR using two primers that overlap one base at the site of the point mutation and which vary in size. If the two primers based on the normal sequence match the target DNA sequence, a normal PCR product will be produced. However, if the alternately sized primers that match the mutant sequence recognize the target DNA, an abnormal PCR product will be produced. Thus, the mass spectrometer can be used to identify patients that are homozygous normal, heterozygous for a mutation or homozygous abnormal at a mutation site. Another approach to identify similar mutations is the use of sequence specific restriction enzymes which respond to changes in the DNA seq...Continue Reading

References

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Citations

Jan 5, 2002·Journal of Microbiological Methods·N I TaranenkoC H Chen
Feb 1, 2000·Trends in Biotechnology·T J Griffin, L M Smith
Mar 20, 1999·Genetic Analysis : Biomolecular Engineering·J H GraberC R Cantor
Nov 30, 2002·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Sascha Sauer, Ivo G Gut
Apr 29, 1998·Nature Biotechnology·D J FuH Köster
Jun 20, 2009·Bioorganicheskaia khimiia·E N Il'ina, V M Govorun
Apr 15, 2005·Mutation Research·John R EdwardsJingyue Ju
Sep 27, 2002·Journal of the American Society for Mass Spectrometry·T W Dominic ChanY C Leo Li
Aug 19, 2008·Analytica Chimica Acta·Chung-Hsuan Winston Chen
Nov 28, 2001·Pharmacogenomics·L A LarsenP S Andersen
Apr 12, 2002·Journal of Mass Spectrometry : JMS·John M KoomenDavid H Russell
Apr 1, 2003·Mass Spectrometry Reviews·Jörg Tost, Ivo G Gut
Nov 24, 1999·Rapid Communications in Mass Spectrometry : RCM·H LinC H Becker
Jun 7, 2002·The Pharmacogenomics Journal·Z Tsuchihashi, N C Dracopoli

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