Quantitative detection of genetic differences

摘要

A method for detecting a quantitative difference between the amount of a first target nucleic acid and a second target nucleic acid region in a sample region, so that the first target region is a gene or chromosome whose copy number relative is to study, and the second target region is a gene or different chromosome present in normal copy number, wherein said method comprises the steps of: (a) providing the sample comprising the nucleic acid; (B) hybridizing one or more first probes to the first target region; (C) hybridizing one or more second probes to the second target region, so that the number and / or position of the probes second in the second target region differs from the number and / or position of the first probes in the first region objective; (D) detecting the number and / or position of the first probes identified in the nucleic acid molecules of the sample as a specific distinctive assignable to the presence of the first target region; (E) detecting the number and / or position of the probes in the second identified nucleic acid molecules in the sample as a specific distinctive assignable to the presence of the second target region; wherein a difference between the number of specific flags obtained in step (d) and the number of specific flags obtained in step (e) is indicative of a quantitative difference between the amount of the first and second target regions one nucleic acid in the sample; and wherein the detection steps (d) and (e) comprise a detection method based on nanopores.