title: Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.
abstract: DNA duplications and deletions of a 1.5-Mb region in chromosome 17p11.2-12 comprising the gene encoding peripheral myelin protein 22 (PMP-22) are the common mutations in Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP). A 1.7-kb recombination hotspot region has been identified within misaligned flanking repeats (CMT1-REP elements) by detection of CMT- and HNPP-specific junction fragments in Southern blot analyses. In order to simplify routine diagnosis we introduce a polymerase chain reaction-based method to identify directly specific REP junction fragments. Using this test, specific fragments were detected in approximately 67% of both CMT duplication and HNPP deletion cases. Polymorphism within a specific restriction enzyme recognition site is crucial for both Southern blot and PCR analyses of junction fragments.
authors.affiliation: Ruhr-Universität, Bochum, Germany. Andrea.Haupt@rz.ruhr-uni-bochum.de
authors.forename: A
authors.initials: A
authors.lastname: Haupt
authors.forename: L
authors.initials: L
authors.lastname: Schöls
authors.forename: H
authors.initials: H
authors.lastname: Przuntek
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D015139:Blotting, Southern; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D017931:DNA Primers; D006801:Humans; D009185:Myelin Proteins / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D009185:Myelin Proteins; C073687:PMP22 protein, human