title: Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).
abstract: Hereditary neuropathy with liability to pressure palsies (HNPP) is in most cases associated with an interstitial deletion of the same 1.5-Mb region at 17p11.2 that is duplicated in Charcot-Marie-Tooth type 1A (CMT1A) patients. Unequal crossing-over following misalignment at flanking repeat sequences (CMT1A-REP), either leads to tandem duplication in CMT1A patients or deletion in HNPP patients. With the use of polymorphic DNA markers located within the CMT1A/HNPP duplication/deletion region we detected the HNPP deletion in 16 unrelated HNPP patients, 11 of Belgian and 5 of French origin. In all cases, the 1.5-Mb size of the HNPP deletion was confirmed by EcoRI dosage analysis using a CMT1A-REP probe. In the 16 HNPP patients, the same 370/320-kb EagI deletion-junction fragments were detected with pulsed field gel electrophoresis (PFGE), while in CMT1A patients, a 150-kb EagI duplication-junction fragment was seen. Thus, PFGE analysis of EagI-digested DNA with a CMT1A-REP probe allows direct detection of the HNPP deletion or the CMT1A duplication for DNA diagnostic purposes.
authors.affiliation: Born Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Belgium.
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: A
authors.initials: A
authors.lastname: Löfgren
authors.forename: E
authors.initials: E
authors.lastname: Le Guern
authors.forename: P
authors.initials: P
authors.lastname: Liang
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: D
authors.initials: D
authors.lastname: Verhalle
authors.forename: W
authors.initials: W
authors.lastname: Robberecht
authors.forename: R
authors.initials: R
authors.lastname: Gouider
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
mesh_terms: D015139:Blotting, Southern; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D003434:Crossing Over, Genetic; D004247:DNA / Q000235:genetics; D003711:Demyelinating Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D017384:Sequence Deletion
chemical_list: D004247:DNA