Digital pcr

B Vogelstein, KW Kinzler - Proceedings of the National …, 1999 - National Acad Sciences
Proceedings of the National Academy of Sciences, 1999National Acad Sciences
The identification of predefined mutations expected to be present in a minor fraction of a cell
population is important for a variety of basic research and clinical applications. Here, we
describe an approach for transforming the exponential, analog nature of the PCR into a
linear, digital signal suitable for this purpose. Single molecules are isolated by dilution and
individually amplified by PCR; each product is then analyzed separately for the presence of
mutations by using fluorescent probes. The feasibility of the approach is demonstrated …
The identification of predefined mutations expected to be present in a minor fraction of a cell population is important for a variety of basic research and clinical applications. Here, we describe an approach for transforming the exponential, analog nature of the PCR into a linear, digital signal suitable for this purpose. Single molecules are isolated by dilution and individually amplified by PCR; each product is then analyzed separately for the presence of mutations by using fluorescent probes. The feasibility of the approach is demonstrated through the detection of a mutant ras oncogene in the stool of patients with colorectal cancer. The process provides a reliable and quantitative measure of the proportion of variant sequences within a DNA sample.
National Acad Sciences