METHOD AND SYSTEM FOR MULTIPLEX PROFILING OF CHROMOSOMES IN BIOLOGICAL SAMPLES USING TARGET-SPECIFIC DNA PROBES

摘要

The present invention comprises methods and systems to profile individual chromosomes using target-specific DNA probes in biological samples. The invention relates to generation of chromosome profiles either singly or in combination (multiplex). The invention can refer to the generation of chromosome profiles using target-specific DNA probes for various biological samples such as cell free DNA from the peripheral blood of a pregnant woman or from a cancer patient. The invention further involving generation of chromosome profiles using target-specific DNA probes for individual intact cells from the peripheral blood of a pregnant woman, from a cancer patient or from an embryo created using artificial reproductive technologies. The invention further involving detection of target-specific DNA hybridizations through direct fluorescence by special spectral filters or fluorescence intensity by fluorimeters. Alternatively, chemiluminescent system can be used for detecting target-specific DNA hybridizations indirectly through enzyme-substrate reactions using poly-HRP as enzyme and enhanced luminol as substrate.

主权项

1. A method for multiplex profiling of chromosomes in biological samples using target-specific DNA probes, said method comprising the steps of:
a) associating plurality of specific DNA probes with specific target DNA sequences on at least one specific chromosome within an intact interphase cell; b) attaching fluorescent labels, capable of emitting distinct signals, to parts of the said plurality of DNA probes such that a final of said DNA probes generates one to four fluorescent signals, thus creating a unique signal, wherein a composition of said unique signal differs from targets on any given said chromosome; and c) hybridizing said DNA probes to said targets on a said chromosome.