Detection of single nucleotide polymorphisms by the combination of nuclease S1 and PNA.

Abstract

A very simple and practical genotyping method has been developed by combining peptide nucleic acid (PNA) and nuclease S1. The portion in the sample DNA, which is complementary with PNA (either completely or partially), is protected from the enzymatic digestion, providing the DNA fragments of predetermined size. The MALDI-TOF MASS on them concretely substantiates whether the SNP exists in the DNA of patient or not. By employing appropriate reaction conditions and using a dye as probe, the SNP diagnosis is visually accomplished by naked eyes.