PROCESS FOR THE IN VITRO DIAGNOSIS OF CHROMOSOMAL ANOMALIES CORRELATED WITH CMT1A DISEASE

摘要

2102300 9219770 PCTABS00017 The invention relates to a process for the in vitro diagnosis of chromosomal anomalies liable to be correlated with CMT1a disease. The invention also relates to probes intended for use in this in vitro diagnosis process and to kits containing such probes. The probes of the invention can contain a sequence constituted of from about 15 successive nucleotides of NotI fragment, with the NotI fragment having 1.2 x 106 base pairs and being obtainable by digesting human DNA of patients with NotI, separating the fragments resulting from digestion by pulsed field gel electrophoresis and hybridizing the resulting fragments with any of the probes VAW409, EW401 or VAW412 or their derivatives, to about the total number of the successive nucleotides of the NotI fragment. The probes enable the detection of the duplication of a part of chromosome 17p.