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Study of the duplication of 1711.2-12 chromosome region for the patients with hereditary motor and sensory neuropathy type 1A

Grishchenko N.V., Bychkova A.M., Pichkur N.A., Skiban G.V., Dmytrenko V.V., Livshitz L.A.

 


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Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1:2500 individuals. CMT is a heterogeneous group of disorders characterized by chronic peripheral motor and sensory neuropathy. We have performed the detection of 1,5 Mb CMT1A tandem duplication in 17p11.2-12 chromosome region for autosome-dominant CMT1 patients and their relatives using the analysis of two (CA)n polymorphic microsatellite loci: 17S921 and 17S1358 localised in the duplication region. CMT1A duplication was found in three of five autosome-dominant CMT1 families. It has been shown that CMT1A duplication analysis is important for early differential diagnosis of CMT including prenatal diagnosis and genetic consulting in high risk families.

Tsitologiya i Genetika 2003, vol. 37, no. 6, pp. 55-59



Grishchenko N.V., Bychkova A.M., Pichkur N.A., Skiban G.V., Dmytrenko V.V., Livshitz L.A. Study of the duplication of 1711.2-12 chromosome region for the patients with hereditary motor and sensory neuropathy type 1A, Tsitol Genet., 2003, vol. 37, no. 6, pp. 55-59.




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