ELIMINATION PROBE-BASED METHOD FOR DETECTING NUMERICAL CHROMOSOMAL ABNORMALITIES, AND NUCLEIC ACID COMPOSITION FOR DETECTING NUMERICAL CHROMOSOMAL ABNORMALITIES

摘要

The present invention relates to a method for analyzing the presence or absence of aneuploidy of a target chromosome with high sensitivity, and a composition for detecting chromosomal aneuploidy, and more particularly to a method of identifying chromosomal aneuploidy by amplifying a control nucleotide sequence, located on a chromosome not associated with chromosomal aneuploidy, and a target nucleotide sequence located on a chromosome associated with chromosomal aneuploidy, by using the same primer, and then hybridizing the amplification products with an assay probe that differs by one or two nucleotides from the control nucleotide sequence and with an elimination probe that comprises part or all of a sequence of the assay probe, which hybridizes with the target nucleotide sequence or the control nucleotide sequence, the elimination probe having a higher binding affinity for the amplification products than the assay probe, and analyzing melting curves of the hybridization products. The method for detecting chromosomal aneuploidy according to the present invention may analyze the ratio of the target nucleotide sequence to the control nucleotide sequence at high resolution by eliminating equal amounts (certain proportions) of the target nucleotide sequence and the control nucleotide sequence from the analysis using the elimination sequence. This method is useful because numerical abnormalities (aneuploidy) in chromosomes (e.g., fetal chromosomes in maternal blood, and circulating tumor DNA in cancer patients) present at low rates can be detected quickly with high sensitivity by the use of this method.