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

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...

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Veröffentlicht in:	Cytology and genetics 2009, Vol.43 (1), p.28-32
Hauptverfasser:	Hryshchenko, N. V, Livshits, L. A
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine Human Genetics
Online-Zugang:	Volltext
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Beschreibung
Zusammenfassung:	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.
ISSN:	0095-4527 1934-9440
DOI:	10.3103/S0095452709010058