VERFAHREN FÜR DIE IN-VITRO-DIAGNOSE VON MIT CHARCOT-MARIE-TOOTH-KRANKHEIT VOM TYP-1A ZUSAMMENHÄNGENDEN CHROMOSOMENANOMALIEN

摘要

Process for the in vitro diagnosis of chromosomal anomalies liable to be correlated with CMT1a disease, probes intended in this in vitro diagnosis process and kits containing said probes. The probes can obtain a sequence constituted of from about 15 successive nucleotides of NotI fragment, with said NotI fragment having 1.2 x 10<6> base pairs and being obtained after 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.