Method for Detecting Chromosomal Numeric Abnormality based on Elimination Probe and Composition for Detecting Chromosomal Numeric Abnormality

摘要

The present invention relates to a method for analyzing a numerical abnormality of a target chromosome with high sensitivity, and to a composition for detecting a numerical chromosomal abnormality, and more specifically, to a method in which a control sequence located on a chromosome unrelated to a numerical chromosomal abnormality and a target sequence located on a chromosome associated with the numerical chromosomal abnormality are both amplified by using the same primer, hybridization with the amplification products is performed by using an assay probe and an elimination probe, wherein the assay probe has one or two base sequences different from the control sequence or target sequence, and the elimination probe includes a portion or all of a hybridization sequence of the target sequence or control sequence of the assay probe and exhibits a higher affinity to the amplification products than the assay probe, and a numerical chromosomal abnormality is identified by analyzing a melting curve of a hybridized reaction product. According to the present invention, the method for detecting a numerical chromosomal abnormality is configured to, by using the elimination probe, exclude an equivalent amount of the target sequence and control sequence in a predetermined ratio from the assay, and thus can analyze a ratio of the target sequence to the control sequence in a high resolution, and this advantage of the present invention enables detection of numerical chromosomal abnormalities that exist at low frequency (for example, fetal chromosomes in a mother′s blood or amniotic fluid) with high sensitivity and high speed.