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

Study of the duplication of 17Р11.2-12 chromosome region for the patients with hereditary motor and sensory neuropathy type 1A

Cytology and Genetics 2003, v 37, number 6, 55-59

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.