Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukrai

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Tsitol Genet. 2009 Jan-Feb;43(1):36-41.

Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from

Ukraine.

Hryshchenko NV, Livshits LA.

Institute of Molecular Biology and Genetics, NASU, 150 Zabolotnogo str., Kyiv,

Ukraine 03680.

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.