Method for the detection of copy number variations

Abstract

A method for the detection of copy number variations (CNVs) that combines similar sequences with melting curve analysis. The method consists of the following steps: 1) screening similar endogenous reference sequences or synthetic similar exogenous reference sequences in the entire genome according to the target sequence; 2) aligning the target sequence and the reference sequence and designing common amplification primers; 3) amplifying the target sequence and the reference sequence in a same reaction tube using a pair of common primers; and 4) analyzing the PCR product by melting curve analysis. When CNVs exist, the melting curve profiles of abnormal cases can be distinguished from those of unaffected samples using this method, thus attaining the object of detection. The method can be applied to dosage-variant genes and aneuploidy. The method is applicable to screening large populations, prenatal samples, mosaicism and cell-free fetal DNA in maternal plasma.

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