Methods and compositions for detecting copy number and chromosome aneuploidy by ligation probes and partitioning the ligated products prior to amplification
作者： Serge Saxonov , Michael Lucero , Kevin Dean Ness , Philip Belgrader , Billy Wayne Colston
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摘要: Methods to determine nucleic acid copy numbers within a genetic material, such as chromosome number for the detection of foetal or chromosomal diseases trisomy tetraploidy in Downâ s syndrome, 8, Kleinfelterâ Patau Edwards syndrome XXX are disclosed wherein first ligation probe (half-probe) specific target sequence is hybridised acid, second an adjacent and two half-probes joined by prior partitioning, preferably water-in-oil emulsion subjected quantitative amplification, PCR approach. A microcapsule comprising solid-phase exterior aqueous phase containing ligated mixture probes also disclosed.
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