Method of identifying clonal cell samples using heteroduplex generators

摘要

Methods of distinguishing between neoplasms and pseudoneoplastic or hyperplastic processes are disclosed. The methods comprise first contacting DNA from cells of a tissue sample from a female individual with a cytosine-methylation specific endonuclease, generating amplified fragments of a cytosine-methylation regulatable polymorphic X chromosome gene using primers that bracket a restriction site of said cytosine-methylation specific endonuclease and a polymorphic sequence in said nucleotide sequence of the gene; generating heteroduplexes between amplified fragments and heteroduplex generators which consist of 1-5 nucleotide differences from the amplified fragments; and detecting the presence of a single species of heteroduplex or two species of heteroduplexes. The presence of a single species of heteroduplex which indicates amplified fragments from a clonal population of cells which is indicative a neoplasm and the presence of two species of heteroduplexes indicates amplified fragments from a mosaic population of cells is indicative a pseudoneoplastic or hyperplastic process. Reagents and kits for performing the methods are disclosed.