Method of identifying clonal cell samples

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.