Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine

• Published in: Цитология и генетика
• Date: 2005
• Main Authors: Hryshchenko, N.V., Kravchenko, S.A., Livshits, L.A.
• Format: Article
• Language: English
• Published: Інститут клітинної біології та генетичної інженерії НАН України 2005
• Subjects: Оригинальные работы
• Online Access: https://nasplib.isofts.kiev.ua/handle/123456789/126776
• Journal Title: Digital Library of Periodicals of National Academy of Sciences of Ukraine
• Cite this: Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine / N.V. Hryshchenko, S.A. Kravchenko, L.A. Livshits // Цитология и генетика. — 2005. — Т. 39, № 5. — С. 56-61. — Бібліогр.: 23 назв. — англ.

Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1 : 2500 individuals. The major mutation – microduplication of 1.4 megabases in 17р11.2 region, which is responsible for 68–90 % of cases of CMT1, results in CMT1A. In the present article we provide the po...