title: Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine.
abstract: Two intercomplementary methods of 17p11.2 duplication/deletion identification have been elaborated: STR allelic variants analysis and direct PMP22 gene dosage measuring by means of quantitative Real- Time PCR. It has been carried out detection and analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine. It has been registered the high level of de novo cases with 17p11.2-duplication. It has been shown the 17p11.2 chromosome region duplication/deletion association with CMT1A and HNPP clinical phenotypes which may be used in differential diagnosis of this type of CMT polyneuropathy.
authors: Institute of Molecular Biology and Genetics, NASU, 150 Zabolotnogo str., Kyiv, Ukraine 03680.
authors: N V
authors: NV
authors: Hryshchenko
authors: L A
authors: LA
authors: Livshits
mesh_terms: D016022:Case-Control Studies; D002607:Charcot-Marie-Tooth Disease / Q000097:blood / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004247:DNA / Q000235:genetics; D003937:Diagnosis, Differential; D018628:Gene Dosage; D020440:Gene Duplication; D015321:Gene Rearrangement; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D009185:Myelin Proteins / Q000235:genetics; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014455:Ukraine
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human; D004247:DNA