Polymorphism ratio sequencing: A new approach for single nucleotide polymorphism discovery and genotyping
Polymorphism ratio sequencing: A new approach for single nucleotide polymorphism discovery and genotyping
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DOI：
10.1101/gr.396203
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发表时间：
2003-02-01
期刊：
影响因子：
7
通讯作者：
Mathies, RA
中科院分区：
文献类型：
--
作者：
Blazej, RG;Paegel, BM;Mathies, RA
Polymorphism ratio sequencing (PRS) combines the advantages of high-throughput DNA sequencing with new labeling and pooling schemes to produce a powerful assay for sensitive single nucleotide polymorphism (SNP) discovery, rapid genotyping, and accurate, multiplexed allele frequency determination. In the PRS method, dideoxy-terminator extension ladders generated from a sample and reference template are labeled with different energy-transfer fluorescent dyes and coinjected into a separation capillary for comparison of relative signal intensities. We demonstrate the PRS method by screening two human mitochondrial genomes for sequence variations using a microfabricated capillary array electrophoresis device. A titration of multiplexed DNA samples places the limit of minor allele frequency detection at 5%. PRS is a sensitive and robust polymorphism detection method for the analysis of individual or multiplexed samples that is compatible with any four-color fluorescence DNA sequencer.
