Simple SNP analysis using mass spectrometry
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United States of America Patent
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Jul 8, 2003
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app pub date -
Nov 12, 1999
filing date -
Nov 12, 1998
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Abstract
The invention relates to a method of investigating by mass spectrometry the genetic material deoxyribonucleic acid (DNA) replicated by polymerase chain reaction (PCR), for the identification of known mutations and polymorphisms; it particularly relates to the analysis of single nucleotide polymorphisms (SNPs) by matrix assisted laser desorption and ionization (MALDI). The invention consists of using a set of nucleoside triphosphates for the selective PCR replication of the DNA in which one or more of the nucleoside triphosphates have been made much heavier by attaching a chemical group, but in such a way that the replication is not disturbed by the polymerase. In this way a single nucleotide polymorphism in DNA pieces with a length of about 40 to 50 bases can very easily be made visible by mass spectrometry without any further manipulation.
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