DETECTING INCREASE OR DECREASE IN THE AMOUNT OF A NUCLEIC ACID HAVING A SEQUENCE OF INTEREST

摘要

A method of detecting copy number variations in foetal or tumour DNA within a sample of circulating cell-free DNA includes carrying out amplification of DNA such that amplification of longer DNA molecules is discriminated against. This results in preferential amplification of foetal or tumour DNA, which can then be analysed using, for example,array comparative genome hybridisation.

主权项

1. A method of determining whether there is an increased or decreased amount of a nucleic acid having a sequence of interest derived from a first source in a sample of circulating cell-free nucleic acids, the sample comprising nucleic acids from the first source and nucleic acids from a second source, wherein the sample of cell-free nucleic acids includes nucleic acids falling within two size ranges, a shorter size range and a longer size range, wherein the nucleic acids from the first source are found in the shorter size range, the method including:
a) forming templates for amplification from at least the nucleic acids in the shorter size range; b) enriching the sample for the nucleic acids in the shorter size range by amplifying the templates to form amplification products in a manner independent of the nucleotide sequence of the nucleic acid having a sequence of interest; and c) determining the relative amount of the amplification product of the nucleic acid having a sequence of interest by comparing to the amount of a control amplification product derived from the sample, the control amplification product having a control sequence, the control sequence being different to the sequence of interest.