Analysis Of 17p11.2 Chromosome Region Rearrangements In Cmt1 Patients From Ukraine

N. V. Hryshchenko; L. A. Livshits

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Analysis Of 17p11.2 Chromosome Region Rearrangements In Cmt1 Patients From Ukraine

机译：乌克兰Cmt1患者17p11.2染色体区域重排的分析

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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.

机译：已经阐述了两种17p11.2复制/缺失鉴定的互补方法：STR等位基因变异分析和通过定量实时PCR的直接PMP22基因剂量测量。已经对乌克兰的CMT1患者进行了17p11.2染色体区域重排的检测和分析。它已被注册为17p11.2重复的高级别de novo案件。已经显示17p11.2染色体区域复制/缺失与CMT1A和HNPP临床表型相关，可用于这种类型的CMT多发性神经病的鉴别诊断。

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《Cytology and genetics》 |2009年第1期|28-32|共5页
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N. V. Hryshchenko; L. A. Livshits;
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7. Analysis of 17p11.2 chromosome region rearrangements in CMT1 patients from Ukraine [O] . Hryshchenko N.V., Livshits L.A. 2009

机译：乌克兰CMT1患者17p11.2染色体区域重排的分析

Analysis Of 17p11.2 Chromosome Region Rearrangements In Cmt1 Patients From Ukraine

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