| abstract |
Methods to determine nucleic acid copy numbers within a genetic material, such as chromosome number for the detection of foetal genetic or chromosomal diseases such as trisomy or tetraploidy in Downâ s syndrome, trisomy 8, Kleinfelterâ s syndrome, Patau syndrome, Edwards syndrome or XXX syndrome are disclosed wherein a first ligation probe (half-probe) specific for a first target sequence is hybridised to a target nucleic acid, a second ligation probe (half-probe) specific for a second target sequence is hybridised to an adjacent nucleic acid sequence and the two half-probes are joined by ligation prior to partitioning, preferably in an water-in-oil emulsion and subjected to quantitative amplification, preferably by a quantitative PCR approach. A microcapsule comprising a solid-phase exterior and an aqueous phase containing a ligated probe and a water-in-oil mixture comprising a ligation probes are also disclosed. |