title: [Study of the duplication of 17p11.2-12 chromosome region in the patients with hereditary motor and sensory neuropathy type 1A].
abstract: Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1:2500 individuals. CMT is a heterogeneous group of disorders characterized by chronic peripheral motor and sensory neuropathy. We have performed the detection of 1.5 Mb CMT1A tandem duplication in 17p11.2-12 chromosome region for autosome-dominant CMT1 patients and their relatives using the analysis of two (CA)n polymorphic microsatellite loci: 17S921 and 17S1358 localised in the duplication region. CMT1A duplication was found in three of five autosome-dominant CMT1 families. It has been shown that CMT1A duplication analysis is important for early differential diagnosis of CMT including prenatal diagnosis and genetic consulting in high risk families.
authors.forename: N V
authors.initials: NV
authors.lastname: Hryshchenko
authors.forename: A M
authors.initials: AM
authors.lastname: Bychkova
authors.forename: N A
authors.initials: NA
authors.lastname: Pichkur
authors.forename: H V
authors.initials: HV
authors.lastname: Skyban
authors.forename: V V
authors.initials: VV
authors.lastname: Dmytrenko
authors.forename: L A
authors.initials: LA
authors.lastname: Livshyts'
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000032:analysis; D020440:Gene Duplication; D006801:Humans; D018895:Microsatellite Repeats; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA