Detecting mutation in target nucleic acid, useful for detecting hereditary genetic diseases, comprises using chip whose electrical or optical property changes relative to the presence of hybridized probe

摘要

Detecting a mutation at a particular position in a target nucleic acid, comprising binding the target to a solid support, hybridizing a probe to the target, elongating the probe with nucleotide(s) resistant to exonuclease, digesting the probe with exonuclease and detecting bound nucleic acid, is new. Detecting a mutation in position 'n' in a target nucleic acid, comprising: (a) hybridizing a probe 5' bound to a DNA chip solid support with a target nucleic acid, where the 3' extremity of the probe maximally hybridizes up to the 'n' position; (b) elongating the hybridized probe by incorporating 5' to 3' nucleotides complementary to the target nucleic acid using a reaction mixture comprising at least one nucleotide derivative which is resistant to degradation with an exonuclease and a DNA polymerase; (c) digesting with the exonuclease so that only the non-elongated probes are digested; (d) washing; and (e) detecting the mutation by measuring indirectly or directly the presence of DNA. An Independent claim is also included for a device for carrying out the above method.