DETECTION OF CHROMOSOMAL ABNORMALITIES

摘要

The present invention has provided a method for detection of the presence or absence of chromosomal abnormalities which are associated with a condition e.g. leukaemia in a subject and are each defined by at least one characteristic nucleic acid sequence. In general, the method comprises subjecting a sample of nucleic acids to a multiplex molecular amplification procedure. The multiplex molecular amplification procedure comprises the use of at least 7 mutually distinct primers in one single reaction mixture, each of the at least 7 mutually distinct primers defining an end of at least one characteristic nucleic acid sequence, and wherein at least one of the at least 7 mutually distinct primers defines the first ends of at least two characteristic nucleic acid sequences, said at least two characteristic nucleic acid sequences each being defined in their opposite ends by mutually distinct primers selected from the remainder of the at least 7 mutually distinct primers, whereby the number of amplified characteristic nucleic acid sequences which can be detected upon conclusion of the amplification reaction is at least 1/2xn+1, wherein n is the number of the at least 7 mutually distinct primers. In one embodiment, the use of an internal positive standard containing: I) a nucleic acid fragment present in the sample, and II) primers for amplification of a nucleotide sequence of said nucleic acid fragment is incorporated into the procedure.