Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine |
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Authors: | N V Hryshchenko L A Livshits |
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Institution: | (1) Institute of Molecular Biology and Genetics, NASU, ul. Zabolotnogo 150, Kyiv, Ukraine, 03680 |
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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.
The article is published in the original. |
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